From 07b96d1e27ea4fb62e846072c295825d683b320b Mon Sep 17 00:00:00 2001 From: James Herr Date: Mon, 16 Dec 2024 16:56:33 -0600 Subject: [PATCH 01/61] WIP Initial setup --- .../workflows/golden-staging-test-submit.yml | 66 +++++++++++++++++++ .../rse2e/GoldenTest.groovy | 24 +++++++ 2 files changed, 90 insertions(+) create mode 100644 .github/workflows/golden-staging-test-submit.yml create mode 100644 rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenTest.groovy diff --git a/.github/workflows/golden-staging-test-submit.yml b/.github/workflows/golden-staging-test-submit.yml new file mode 100644 index 000000000..fb12aa660 --- /dev/null +++ b/.github/workflows/golden-staging-test-submit.yml @@ -0,0 +1,66 @@ +name: Automated Staging Test - Submit Messages + +on: + schedule: + - cron: "0 5 * * 2-6" # Tuesday to Saturday at Midnight EST (5am UTC) + workflow_dispatch: + +jobs: + send_files: + runs-on: ubuntu-latest + + steps: + - name: Check out the repository + uses: actions/checkout@v4 + + - name: Install jq + run: sudo apt-get install -y jq + + - name: Install jwt-cli + run: | + curl --silent --location https://github.com/mike-engel/jwt-cli/releases/latest/download/jwt-linux.tar.gz | tar xvz -C /usr/local/bin/ + sudo chmod +x /usr/local/bin/jwt + + - name: Write private key to file + run: | + echo "${{ secrets.SIMULATED_SENDER_STAGING_PRIVATE_KEY }}" > /tmp/staging_private_key.pem + chmod 600 /tmp/staging_private_key.pem + + - name: Send HL7 sample messages to staging RS + run: | + host=https://staging.prime.cdc.gov:443 + client_id=flexion + client_sender=simulated-sender + jwt=$(jwt encode --exp='+5min' --jti $(uuidgen) --alg RS256 \ + -k $client_id.$client_sender -i $client_id.$client_sender \ + -s $client_id.$client_sender -a $host --no-iat -S @/tmp/staging_private_key.pem) + + token=$(curl \ + --header "Content-Type: application/x-www-form-urlencoded" \ + --data "scope=$client_id.*.report" \ + --data "client_assertion=$jwt" \ + --data "client_assertion_type=urn:ietf:params:oauth:client-assertion-type:jwt-bearer" \ + --data "grant_type=client_credentials" \ + --silent \ + "$host/api/token" | jq -r ".access_token") + + for file in $(pwd)/examples/Test/Automated/golden*.hl7; do + echo "Sending $file" + curl \ + --header "Content-Type: application/hl7-v2" \ + --header "Client: $client_id.$client_sender" \ + --header "Authorization: Bearer $token" \ + --data-binary "@$file" \ + --silent \ + "$host/api/waters" + done + + + + + + + - name: Clean up private key + if: always() + run: | + rm -f /tmp/staging_private_key.pem diff --git a/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenTest.groovy b/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenTest.groovy new file mode 100644 index 000000000..26d61bd39 --- /dev/null +++ b/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenTest.groovy @@ -0,0 +1,24 @@ +package gov.hhs.cdc.trustedintermediary.rse2e + +import spock.lang.Specification + +import java.nio.file.Files +import java.nio.file.Path + +class GoldenTest extends Specification { + + def beforeFileJsonFileString = Files.readString(Path.of("../examples/Test/Automated/golden_before.fhir")) + def afterFileJsonFileString = Files.readString(Path.of("../examples/Test/Automated/golden_after.fhir")) + + def setup() { + } + // hola mi amigo fdfdfdji. senor james. el + def "Golden Test"() { + // notes: + // Use workflow to sendoff the file (happens via Github Action) + + + // compare with known good file + // def matchedFiles = fileMatcher.matchFiles(azureFiles, localFiles) + } +} From 2d14e9a32cf50f534e4c07abb1168feb8bd90e1a Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Mon, 16 Dec 2024 16:29:17 -0700 Subject: [PATCH 02/61] add notes for later and initial setup/cleanup --- .../rse2e/GoldenTest.groovy | 57 ++++++++++++++++++- 1 file changed, 56 insertions(+), 1 deletion(-) diff --git a/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenTest.groovy b/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenTest.groovy index 26d61bd39..e50041bb1 100644 --- a/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenTest.groovy +++ b/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenTest.groovy @@ -1,5 +1,14 @@ package gov.hhs.cdc.trustedintermediary.rse2e +import gov.hhs.cdc.trustedintermediary.context.TestApplicationContext +import gov.hhs.cdc.trustedintermediary.external.jackson.Jackson +import gov.hhs.cdc.trustedintermediary.rse2e.external.hapi.HapiHL7ExpressionEvaluator +import gov.hhs.cdc.trustedintermediary.rse2e.external.hapi.HapiHL7FileMatcher +import gov.hhs.cdc.trustedintermediary.rse2e.ruleengine.AssertionRuleEngine +import gov.hhs.cdc.trustedintermediary.ruleengine.RuleLoader +import gov.hhs.cdc.trustedintermediary.wrappers.HealthDataExpressionEvaluator +import gov.hhs.cdc.trustedintermediary.wrappers.Logger +import gov.hhs.cdc.trustedintermediary.wrappers.formatter.Formatter import spock.lang.Specification import java.nio.file.Files @@ -10,13 +19,59 @@ class GoldenTest extends Specification { def beforeFileJsonFileString = Files.readString(Path.of("../examples/Test/Automated/golden_before.fhir")) def afterFileJsonFileString = Files.readString(Path.of("../examples/Test/Automated/golden_after.fhir")) + List azureFiles // output + List localFiles // input + AssertionRuleEngine engine + HapiHL7FileMatcher fileMatcher + Logger mockLogger = Mock(Logger) + List loggedErrorsAndWarnings = [] + def setup() { + engine = AssertionRuleEngine.getInstance() + fileMatcher = HapiHL7FileMatcher.getInstance() + + TestApplicationContext.reset() + TestApplicationContext.init() + TestApplicationContext.register(AssertionRuleEngine, engine) + TestApplicationContext.register(RuleLoader, RuleLoader.getInstance()) + TestApplicationContext.register(Logger, mockLogger) + TestApplicationContext.register(Formatter, Jackson.getInstance()) + TestApplicationContext.register(HapiHL7FileMatcher, fileMatcher) + TestApplicationContext.register(HealthDataExpressionEvaluator, HapiHL7ExpressionEvaluator.getInstance()) + TestApplicationContext.register(LocalFileFetcher, LocalFileFetcher.getInstance()) + TestApplicationContext.injectRegisteredImplementations() + + mockLogger.logWarning(_ as String, _ as Object) >> { String msg, Object args -> + loggedErrorsAndWarnings << msg + } + mockLogger.logError(_ as String, _ as Exception) >> { String msg, Exception e -> + loggedErrorsAndWarnings << msg + } + + FileFetcher azureFileFetcher = AzureBlobFileFetcher.getInstance() + azureFiles = azureFileFetcher.fetchFiles() + + FileFetcher localFileFetcher = LocalFileFetcher.getInstance() + localFiles = localFileFetcher.fetchFiles() + + engine.ensureRulesLoaded() // we don't want this because it uses the hardcoded assertion_definition.json OR we want to modify that method + } + + def cleanup() { + for (HL7FileStream fileStream : localFiles + azureFiles) { + fileStream.inputStream().close() + } } - // hola mi amigo fdfdfdji. senor james. el + def "Golden Test"() { // notes: // Use workflow to sendoff the file (happens via Github Action) + // Call the automated-staging-test-submit workflow. Prob use a variable for the path of the folder unless we add to same folder. + // Call the automated-staging-test-run workflow. It shouldn't matter if it grabs all Azure files, we can use the MSH-10 to narrow it down like assertion_rules or use something else + // Modify the Rules Engine or create a different one + // If we do use the rules engine, see if its possible to compare the whole file as a rule rather than individual segments + // Update Automated Test README // compare with known good file // def matchedFiles = fileMatcher.matchFiles(azureFiles, localFiles) From f8afd5469deacefe91cc9ee2968ac416480ed7e4 Mon Sep 17 00:00:00 2001 From: James Herr Date: Tue, 17 Dec 2024 10:42:21 -0600 Subject: [PATCH 03/61] Added basic compare Co-Authored-By: Sylvie <38440028+somesylvie@users.noreply.github.com> Co-Authored-By: Samuel Aquino --- examples/Test/Automated/golden_actual.hl7 | 1 + examples/Test/Automated/golden_expected.hl7 | 1 + .../rse2e/GoldenTest.groovy | 30 ++++++++++++------- 3 files changed, 22 insertions(+), 10 deletions(-) create mode 100644 examples/Test/Automated/golden_actual.hl7 create mode 100644 examples/Test/Automated/golden_expected.hl7 diff --git a/examples/Test/Automated/golden_actual.hl7 b/examples/Test/Automated/golden_actual.hl7 new file mode 100644 index 000000000..d00491fd7 --- /dev/null +++ b/examples/Test/Automated/golden_actual.hl7 @@ -0,0 +1 @@ +1 diff --git a/examples/Test/Automated/golden_expected.hl7 b/examples/Test/Automated/golden_expected.hl7 new file mode 100644 index 000000000..d00491fd7 --- /dev/null +++ b/examples/Test/Automated/golden_expected.hl7 @@ -0,0 +1 @@ +1 diff --git a/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenTest.groovy b/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenTest.groovy index e50041bb1..ae711053e 100644 --- a/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenTest.groovy +++ b/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenTest.groovy @@ -16,8 +16,9 @@ import java.nio.file.Path class GoldenTest extends Specification { - def beforeFileJsonFileString = Files.readString(Path.of("../examples/Test/Automated/golden_before.fhir")) - def afterFileJsonFileString = Files.readString(Path.of("../examples/Test/Automated/golden_after.fhir")) + def beforeFileJsonFileString = Files.readString(Path.of("../examples/Test/Automated/golden_actual.hl7")) + def afterFileJsonFileString = Files.readString(Path.of("../examples/Test/Automated/golden_expected.hl7")) + List azureFiles // output List localFiles // input @@ -48,22 +49,22 @@ class GoldenTest extends Specification { loggedErrorsAndWarnings << msg } - FileFetcher azureFileFetcher = AzureBlobFileFetcher.getInstance() - azureFiles = azureFileFetcher.fetchFiles() + // FileFetcher azureFileFetcher = AzureBlobFileFetcher.getInstance() + // azureFiles = azureFileFetcher.fetchFiles() - FileFetcher localFileFetcher = LocalFileFetcher.getInstance() - localFiles = localFileFetcher.fetchFiles() + // FileFetcher localFileFetcher = LocalFileFetcher.getInstance() + // localFiles = localFileFetcher.fetchFiles() engine.ensureRulesLoaded() // we don't want this because it uses the hardcoded assertion_definition.json OR we want to modify that method } def cleanup() { - for (HL7FileStream fileStream : localFiles + azureFiles) { - fileStream.inputStream().close() - } + // for (HL7FileStream fileStream : localFiles + azureFiles) { + // fileStream.inputStream().close() + //} } - def "Golden Test"() { + def "Compare files"() { // notes: // Use workflow to sendoff the file (happens via Github Action) @@ -75,5 +76,14 @@ class GoldenTest extends Specification { // compare with known good file // def matchedFiles = fileMatcher.matchFiles(azureFiles, localFiles) + + given: + + + when: + def filesAreIdentical = beforeFileJsonFileString == afterFileJsonFileString + + then: + assert filesAreIdentical, "test" } } From dad2cd3d8804f8ecf36f7711ef8a75da4ebc9079 Mon Sep 17 00:00:00 2001 From: James Herr Date: Tue, 17 Dec 2024 12:05:32 -0600 Subject: [PATCH 04/61] Testing workflow dispatch Co-Authored-By: Samuel Aquino Co-Authored-By: Bella L. Quintero <96704946+pluckyswan@users.noreply.github.com> --- .../automated-staging-test-submit.yml | 10 +- .../workflows/golden-staging-test-submit.yml | 66 -------- ...Indeterminate - SCADD - IBCDD patterns.hl7 | 143 ++++++++++++++++++ 3 files changed, 152 insertions(+), 67 deletions(-) delete mode 100644 .github/workflows/golden-staging-test-submit.yml create mode 100644 examples/Test/Automated/Acylcarnitine - Indeterminate - SCADD - IBCDD patterns.hl7 diff --git a/.github/workflows/automated-staging-test-submit.yml b/.github/workflows/automated-staging-test-submit.yml index 0733accfa..3ef9b176a 100644 --- a/.github/workflows/automated-staging-test-submit.yml +++ b/.github/workflows/automated-staging-test-submit.yml @@ -4,6 +4,13 @@ on: schedule: - cron: "0 5 * * 2-6" # Tuesday to Saturday at Midnight EST (5am UTC) workflow_dispatch: + inputs: + name: + type: choice + description: Type of staging test + options: + - automated-staging-test + - golden-copy-staging-test jobs: send_files: @@ -44,7 +51,8 @@ jobs: --silent \ "$host/api/token" | jq -r ".access_token") - for file in $(pwd)/examples/Test/Automated/*.hl7; do + file_path=Automated/*.hl7 + for file in $(pwd)/examples/Test/$(file_path); do echo "Sending $file" curl \ --header "Content-Type: application/hl7-v2" \ diff --git a/.github/workflows/golden-staging-test-submit.yml b/.github/workflows/golden-staging-test-submit.yml deleted file mode 100644 index fb12aa660..000000000 --- a/.github/workflows/golden-staging-test-submit.yml +++ /dev/null @@ -1,66 +0,0 @@ -name: Automated Staging Test - Submit Messages - -on: - schedule: - - cron: "0 5 * * 2-6" # Tuesday to Saturday at Midnight EST (5am UTC) - workflow_dispatch: - -jobs: - send_files: - runs-on: ubuntu-latest - - steps: - - name: Check out the repository - uses: actions/checkout@v4 - - - name: Install jq - run: sudo apt-get install -y jq - - - name: Install jwt-cli - run: | - curl --silent --location https://github.com/mike-engel/jwt-cli/releases/latest/download/jwt-linux.tar.gz | tar xvz -C /usr/local/bin/ - sudo chmod +x /usr/local/bin/jwt - - - name: Write private key to file - run: | - echo "${{ secrets.SIMULATED_SENDER_STAGING_PRIVATE_KEY }}" > /tmp/staging_private_key.pem - chmod 600 /tmp/staging_private_key.pem - - - name: Send HL7 sample messages to staging RS - run: | - host=https://staging.prime.cdc.gov:443 - client_id=flexion - client_sender=simulated-sender - jwt=$(jwt encode --exp='+5min' --jti $(uuidgen) --alg RS256 \ - -k $client_id.$client_sender -i $client_id.$client_sender \ - -s $client_id.$client_sender -a $host --no-iat -S @/tmp/staging_private_key.pem) - - token=$(curl \ - --header "Content-Type: application/x-www-form-urlencoded" \ - --data "scope=$client_id.*.report" \ - --data "client_assertion=$jwt" \ - --data "client_assertion_type=urn:ietf:params:oauth:client-assertion-type:jwt-bearer" \ - --data "grant_type=client_credentials" \ - --silent \ - "$host/api/token" | jq -r ".access_token") - - for file in $(pwd)/examples/Test/Automated/golden*.hl7; do - echo "Sending $file" - curl \ - --header "Content-Type: application/hl7-v2" \ - --header "Client: $client_id.$client_sender" \ - --header "Authorization: Bearer $token" \ - --data-binary "@$file" \ - --silent \ - "$host/api/waters" - done - - - - - - - - name: Clean up private key - if: always() - run: | - rm -f /tmp/staging_private_key.pem diff --git a/examples/Test/Automated/Acylcarnitine - Indeterminate - SCADD - IBCDD patterns.hl7 b/examples/Test/Automated/Acylcarnitine - Indeterminate - SCADD - IBCDD patterns.hl7 new file mode 100644 index 000000000..048d8fe6f --- /dev/null +++ b/examples/Test/Automated/Acylcarnitine - Indeterminate - SCADD - IBCDD patterns.hl7 @@ -0,0 +1,143 @@ +MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9413816^L,M,N|^1477542173^L,M,N|20241015050654||ORU^R01^ORU_R01|244028180|P|2.5.1\r +PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** +NK1|1|*****PII REMOVED****** +ORC|RE|673678765^FormNumber||M17965^HospOrdNumber||||||||1477542173^BROOKS^STEWART^^^^^^^NPI|||||||||CEDARS-SINAI MEDICAL CENTER^^^^^^^^^R150|8700 BEVERLY BLVD^^W HOLLYWOOD^CA^90048-1804\r +OBR|1|673678765^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410011420|||||||||||||||20241015050654|||F\r +OBR|2|673678765^FormNumber||57128-1^Newborn Screening Report summary panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241015050654\r +OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241015050654\r +OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241015050654\r +OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241015050654\r +OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241015050654\r +OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - LONG BEACH MEMORIAL MEDICAL CENTER \\R\\3747 LONG BEACH BLVD, LONG BEACH, CA 90807-3309\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Acyl Carnitine Panel: An immediate referral to a CCS Metabolic Center is strongly recommended. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at UCLA Medical Center at (310) 826-4458. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. 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spot^LN|1|387|µmol/L||N|||F|||20241015050654\r +OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|381|µmol/L|<1000|N|||F|||20241015050654\r +OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|92.6|µmol/L||N|||F|||20241015050654\r +OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.88595|{Ratio}|<4.3|N|||F|||20241015050654\r +OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|86.8|µmol/L|<230|N|||F|||20241015050654\r +OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.23|{Ratio}|<1.35|N|||F|||20241015050654\r +OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|49.1|µmol/L|<175|N|||F|||20241015050654\r +OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.09|{Ratio}|<2.6|N|||F|||20241015050654\r +OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|45.1|µmol/L|<680|N|||F|||20241015050654\r +OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.24|µmol/L|<6.1|N|||F|||20241015050654\r +OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|16.8|µmol/L|6.3-100|N|||F|||20241015050654\r +OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|20|µmol/L|5-49|N|||F|||20241015050654\r +OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3.22|{Ratio}|<4.8|N|||F|||20241015050654\r +OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|74|µmol/L|<800|N|||F|||20241015050654\r +OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|3.76|{Ratio}||N|||F|||20241015050654\r +OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|6|µmol/L|<63|N|||F|||20241015050654\r +OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.08|{Ratio}|<1.9|N|||F|||20241015050654\r +OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|118|µmol/L|<1500|N|||F|||20241015050654\r +OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015050654\r +OBR|6|673678765^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA11884-6^Indeterminate^LN|||A|||F|||20241015050654\r +OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|This pattern of elevations is consistent with SCADD, IBCDD|||A|||F|||20241015050654\r +OBR|7|673678765^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|34.3|µmol/L|6.4-125|N|||F|||20241015050654\r +OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|5.93|{Ratio}|<70|N|||F|||20241015050654\r +OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|33.2|µmol/L|10-80|N|||F|||20241015050654\r +OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|1.29565|{Ratio}|<7.6|N|||F|||20241015050654\r +OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.136|µmol/L|<0.95|N|||F|||20241015050654\r +OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.150|µmol/L|<0.45|N|||F|||20241015050654\r +OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.65|{Ratio}||N|||F|||20241015050654\r +OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.221|µmol/L|<0.65|N|||F|||20241015050654\r +OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.230|µmol/L|<0.65|N|||F|||20241015050654\r +OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.088|µmol/L|<0.45|N|||F|||20241015050654\r +OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.232|µmol/L|<2|N|||F|||20241015050654\r +OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.20|µmol/L||N|||F|||20241015050654\r +OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.342|µmol/L|<1.2|N|||F|||20241015050654\r +OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.206|µmol/L|<0.9|N|||F|||20241015050654\r +OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.02|{Ratio}||N|||F|||20241015050654\r +OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.03|µmol/L||N|||F|||20241015050654\r +OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.029|µmol/L|<0.2|N|||F|||20241015050654\r +OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|4.14|µmol/L|<12|N|||F|||20241015050654\r +OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.341|µmol/L|<1.4|N|||F|||20241015050654\r +OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.049|µmol/L|<0.1|N|||F|||20241015050654\r +OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01184|{Ratio}|<0.07|N|||F|||20241015050654\r +OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|1.07|µmol/L|<3.5|N|||F|||20241015050654\r +OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.65|µmol/L|<7|N|||F|||20241015050654\r +OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.23|µmol/L||N|||F|||20241015050654\r +OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.022|µmol/L|<0.1|N|||F|||20241015050654\r +OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.053|µmol/L|<0.1|N|||F|||20241015050654\r +OBR|8|673678765^FormNumber||57085-3^Organic acid newborn screen panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|2.3|µmol/L|<7.9|N|||F|||20241015050654\r +OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.07|{Ratio}|<0.42|N|||F|||20241015050654\r +OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.298|µmol/L|<0.48|N|||F|||20241015050654\r +OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|1.73|µmol/L|<1.7|H|||F|||20241015050654\r +OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.139|µmol/L|<0.95|N|||F|||20241015050654\r +OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.06043|{Ratio}|<0.38|N|||F|||20241015050654\r +OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.011|µmol/L|<0.5|N|||F|||20241015050654\r +OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.306|µmol/L|<1.15|N|||F|||20241015050654\r +OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.238|µmol/L|<0.38|N|||F|||20241015050654\r +OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.79866|{Ratio}|>0.1|N|||F|||20241015050654\r +OBR|9|673678765^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|18.10|ng/mL|<69|N|||F|||20241015050654\r +OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r +OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015050654\r +OBR|10|673678765^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00010.8|nmol/L|<85|N|||F|||20241015050654\r +OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r +OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654\r +OBR|11|673678765^FormNumber||54090-6^Thyroid newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|NM|29575-8^Thyrotropin^LN|1|4.00|mIU/L|<29|N|||F|||20241015050654\r +OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r +OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654\r +OBR|12|673678765^FormNumber||54079-9^Galactosemia newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|267.94|enzyme units|>50|N|||F|||20241015050654\r +OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r +OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654\r +OBR|13|673678765^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241015050654\r +OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241015050654\r +OBR|14|673678765^FormNumber||57087-9^Biotinidase newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|44.16|ERU|>10|N|||F|||20241015050654\r +OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r +OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654\r +OBR|15|673678765^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|84|copies/µL|>18|N|||F|||20241015050654\r +OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r +OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654\r +OBR|16|673678765^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|6.97|µmol/L/h|>=1.51|N|||F|||20241015050654\r +OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r +OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241015050654\r +OBR|17|673678765^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|10.38|µmol/L/h|>=0.77|N|||F|||20241015050654\r +OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r +OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654\r +OBR|18|673678765^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241015050654\r +OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r +OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241015050654\r +OBR|19|673678765^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|27.61|µmol/L/h|>=2.75|N|||F|||20241015050654\r +OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r +OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654\r +OBR|20|673678765^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r +OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241015050654\r +OBR|21|673678765^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.04|µmol/L|<=3|N|||F|||20241015050654\r +OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|391.37|µmol/L||N|||F|||20241015050654\r +OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|2.66||<=6|N|||F|||20241015050654\r +OBR|22|673678765^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r +OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241015050654\r +OBR|23|673678765^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.246|µmol/L|<0.47|N|||F|||20241015050654\r From 1d8877c1c0b2b68e30c85fd9d39ba28b2d595f5d Mon Sep 17 00:00:00 2001 From: James Herr Date: Tue, 17 Dec 2024 13:03:40 -0600 Subject: [PATCH 05/61] Aded Golden tests to gradle Co-Authored-By: Samuel Aquino Co-Authored-By: Bella L. Quintero <96704946+pluckyswan@users.noreply.github.com> --- rs-e2e/build.gradle | 10 ++++++++++ 1 file changed, 10 insertions(+) diff --git a/rs-e2e/build.gradle b/rs-e2e/build.gradle index bff4eafe8..5f45c8e5d 100644 --- a/rs-e2e/build.gradle +++ b/rs-e2e/build.gradle @@ -42,3 +42,13 @@ task automatedTest(type: Test) { exceptionFormat 'full' } } + +task goldenCopyTest(type: Test) { + useJUnitPlatform() + include '**/GoldenCopyTest.*' + + testLogging { + showStackTraces true + exceptionFormat 'full' + } +} From 9b816880e66094c484771d689ca5a1d6c190a445 Mon Sep 17 00:00:00 2001 From: James Herr Date: Tue, 17 Dec 2024 13:05:08 -0600 Subject: [PATCH 06/61] Adding Golden tests to Workflows Co-Authored-By: Samuel Aquino Co-Authored-By: Bella L. Quintero <96704946+pluckyswan@users.noreply.github.com> --- .../workflows/automated-staging-test-run.yml | 22 ++++++++- .../automated-staging-test-submit.yml | 11 +++-- ...Indeterminate - SCADD - IBCDD patterns.hl7 | 0 ...oldenTest.groovy => GoldenCopyTest.groovy} | 48 ++++++++++++------- 4 files changed, 58 insertions(+), 23 deletions(-) rename examples/Test/Automated/{ => Golden}/Acylcarnitine - Indeterminate - SCADD - IBCDD patterns.hl7 (100%) rename rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/{GoldenTest.groovy => GoldenCopyTest.groovy} (66%) diff --git a/.github/workflows/automated-staging-test-run.yml b/.github/workflows/automated-staging-test-run.yml index ccfafc56e..b54b33f51 100644 --- a/.github/workflows/automated-staging-test-run.yml +++ b/.github/workflows/automated-staging-test-run.yml @@ -4,6 +4,14 @@ on: schedule: - cron: "0 7 * * 2-6" # Tuesday to Saturday at 2am EST (7am UTC) - two hours after `automated-staging-test-submit` runs workflow_dispatch: + inputs: + name: + type: choice + description: Type of Staging Test + default: Automated Staging Test + options: + - Automated Staging Test + - Golden Copy Staging Test jobs: test_files: @@ -16,7 +24,17 @@ jobs: - name: Run automated tests env: AZURE_STORAGE_CONNECTION_STRING: ${{ secrets.AUTOMATED_TEST_AZURE_STORAGE_CONNECTION_STRING }} - run: ./gradlew rs-e2e:clean rs-e2e:automatedTest + run: | + if [ ${{ github.event.inputs.name }} = "Automated Staging Test" ]; then + test_type=automatedTest + title=Automated + else + test_type=goldenCopyTest + title=Golden Copy + fi + ./gradlew rs-e2e:clean rs-e2e:$(test_type) + echo "test_type=$test_type" >> $GITHUB_OUTPUT + done - name: Send slack notification on test failure if: failure() @@ -25,4 +43,4 @@ jobs: webhook: ${{ secrets.SLACK_WEBHOOK_URL }} webhook-type: incoming-webhook payload: | - text: "Automated Staging RS Integration Test Failed!: https://github.com/CDCgov/trusted-intermediary/actions/runs/${{ github.run_id }}" + text: "${{ steps.getFunctionList.outputs.title }} Staging RS Integration Test Failed!: https://github.com/CDCgov/trusted-intermediary/actions/runs/${{ github.run_id }}" diff --git a/.github/workflows/automated-staging-test-submit.yml b/.github/workflows/automated-staging-test-submit.yml index 3ef9b176a..3c7411d21 100644 --- a/.github/workflows/automated-staging-test-submit.yml +++ b/.github/workflows/automated-staging-test-submit.yml @@ -7,10 +7,11 @@ on: inputs: name: type: choice - description: Type of staging test + description: Type of Staging Test + default: Automated Staging Test options: - - automated-staging-test - - golden-copy-staging-test + - Automated Staging Test + - Golden Copy Staging Test jobs: send_files: @@ -52,6 +53,10 @@ jobs: "$host/api/token" | jq -r ".access_token") file_path=Automated/*.hl7 + if [ ${{ github.event.inputs.name }} = "Golden Copy Staging Test" ]; then + file_path=Automated/Golden/*.hl7 + fi + for file in $(pwd)/examples/Test/$(file_path); do echo "Sending $file" curl \ diff --git a/examples/Test/Automated/Acylcarnitine - Indeterminate - SCADD - IBCDD patterns.hl7 b/examples/Test/Automated/Golden/Acylcarnitine - Indeterminate - SCADD - IBCDD patterns.hl7 similarity index 100% rename from examples/Test/Automated/Acylcarnitine - Indeterminate - SCADD - IBCDD patterns.hl7 rename to examples/Test/Automated/Golden/Acylcarnitine - Indeterminate - SCADD - IBCDD patterns.hl7 diff --git a/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenTest.groovy b/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenCopyTest.groovy similarity index 66% rename from rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenTest.groovy rename to rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenCopyTest.groovy index ae711053e..e447adcc1 100644 --- a/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenTest.groovy +++ b/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenCopyTest.groovy @@ -14,26 +14,20 @@ import spock.lang.Specification import java.nio.file.Files import java.nio.file.Path -class GoldenTest extends Specification { +class GoldenCopyTest extends Specification { - def beforeFileJsonFileString = Files.readString(Path.of("../examples/Test/Automated/golden_actual.hl7")) - def afterFileJsonFileString = Files.readString(Path.of("../examples/Test/Automated/golden_expected.hl7")) - - - List azureFiles // output - List localFiles // input + List azureFiles + List localFiles AssertionRuleEngine engine HapiHL7FileMatcher fileMatcher Logger mockLogger = Mock(Logger) List loggedErrorsAndWarnings = [] def setup() { - engine = AssertionRuleEngine.getInstance() fileMatcher = HapiHL7FileMatcher.getInstance() TestApplicationContext.reset() TestApplicationContext.init() - TestApplicationContext.register(AssertionRuleEngine, engine) TestApplicationContext.register(RuleLoader, RuleLoader.getInstance()) TestApplicationContext.register(Logger, mockLogger) TestApplicationContext.register(Formatter, Jackson.getInstance()) @@ -49,19 +43,17 @@ class GoldenTest extends Specification { loggedErrorsAndWarnings << msg } - // FileFetcher azureFileFetcher = AzureBlobFileFetcher.getInstance() - // azureFiles = azureFileFetcher.fetchFiles() + FileFetcher azureFileFetcher = AzureBlobFileFetcher.getInstance() + azureFiles = azureFileFetcher.fetchFiles() - // FileFetcher localFileFetcher = LocalFileFetcher.getInstance() - // localFiles = localFileFetcher.fetchFiles() - - engine.ensureRulesLoaded() // we don't want this because it uses the hardcoded assertion_definition.json OR we want to modify that method + FileFetcher localFileFetcher = LocalFileFetcher.getInstance() + localFiles = localFileFetcher.fetchFiles() } def cleanup() { - // for (HL7FileStream fileStream : localFiles + azureFiles) { - // fileStream.inputStream().close() - //} + for (HL7FileStream fileStream : localFiles + azureFiles) { + fileStream.inputStream().close() + } } def "Compare files"() { @@ -78,6 +70,26 @@ class GoldenTest extends Specification { // def matchedFiles = fileMatcher.matchFiles(azureFiles, localFiles) given: + def matchedFiles = fileMatcher.matchFiles(azureFiles, localFiles) + + when: + for (messagePair in matchedFiles) { + def inputMessage = messagePair.getKey() + def outputMessage = messagePair.getValue() + // def evaluatedRules = engine.runRules(outputMessage, inputMessage) + // rulesToEvaluate.removeAll(evaluatedRules) + } + + then: + rulesToEvaluate.collect { it.name }.isEmpty() //Check whether all the rules in the assertions file have been run + if (!loggedErrorsAndWarnings.isEmpty()) { + throw new AssertionError("Unexpected errors and/or warnings were logged:\n- ${loggedErrorsAndWarnings.join('\n- ')}") + } + + + given: + def beforeFileJsonFileString = Files.readString(Path.of("../examples/Test/Automated/golden_actual.hl7")) + def afterFileJsonFileString = Files.readString(Path.of("../examples/Test/Automated/golden_expected.hl7")) when: From d4867f7a2390b769792b25cff27faf3923c24937 Mon Sep 17 00:00:00 2001 From: James Herr Date: Tue, 17 Dec 2024 14:33:19 -0600 Subject: [PATCH 07/61] Added fetch parameter Co-Authored-By: Samuel Aquino Co-Authored-By: Bella L. Quintero <96704946+pluckyswan@users.noreply.github.com> --- .../rse2e/AzureBlobFileFetcher.java | 2 +- .../rse2e/FileFetcher.java | 2 +- .../rse2e/LocalFileFetcher.java | 11 ++++-- .../rse2e/AutomatedTest.groovy | 4 +- .../rse2e/GoldenCopyTest.groovy | 39 +++++++------------ 5 files changed, 25 insertions(+), 33 deletions(-) diff --git a/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/AzureBlobFileFetcher.java b/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/AzureBlobFileFetcher.java index 4d9a3a478..8d41d35a4 100644 --- a/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/AzureBlobFileFetcher.java +++ b/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/AzureBlobFileFetcher.java @@ -48,7 +48,7 @@ public static FileFetcher getInstance() { } @Override - public List fetchFiles() { + public List fetchFiles(boolean isAutomated) { List relevantFiles = new ArrayList<>(); LocalDate today = LocalDate.now(TIME_ZONE); diff --git a/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/FileFetcher.java b/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/FileFetcher.java index dcd998148..ed4f02943 100644 --- a/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/FileFetcher.java +++ b/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/FileFetcher.java @@ -7,5 +7,5 @@ * of this interface should provide a way to retrieve a list of HL7FileStream objects. */ public interface FileFetcher { - List fetchFiles(); + List fetchFiles(boolean isAutomatedTest); } diff --git a/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/LocalFileFetcher.java b/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/LocalFileFetcher.java index 3172c5e36..0a2232ed0 100644 --- a/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/LocalFileFetcher.java +++ b/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/LocalFileFetcher.java @@ -15,7 +15,7 @@ */ public class LocalFileFetcher implements FileFetcher { - private static final String FILES_PATH = "../examples/Test/Automated/"; + private static String files_path = "../examples/Test/Automated/"; private static final String EXTENSION = "hl7"; private static final FileFetcher INSTANCE = new LocalFileFetcher(); @@ -27,8 +27,13 @@ public static FileFetcher getInstance() { } @Override - public List fetchFiles() { - try (Stream stream = Files.walk(Paths.get(FILES_PATH))) { + public List fetchFiles(boolean isAutomatedTest) { + if (!isAutomatedTest) { + // there might be problems with this as file_path is static; I'd need to do some more + // digging to be sure + files_path = "../examples/Test/Automated/Golden/"; + } + try (Stream stream = Files.walk(Paths.get(files_path))) { return stream.filter(Files::isRegularFile) .filter(path -> path.toString().endsWith(EXTENSION)) .map( diff --git a/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/AutomatedTest.groovy b/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/AutomatedTest.groovy index c1a4d45ab..c51777da6 100644 --- a/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/AutomatedTest.groovy +++ b/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/AutomatedTest.groovy @@ -43,10 +43,10 @@ class AutomatedTest extends Specification { } FileFetcher azureFileFetcher = AzureBlobFileFetcher.getInstance() - azureFiles = azureFileFetcher.fetchFiles() + azureFiles = azureFileFetcher.fetchFiles(true) FileFetcher localFileFetcher = LocalFileFetcher.getInstance() - localFiles = localFileFetcher.fetchFiles() + localFiles = localFileFetcher.fetchFiles(true) engine.ensureRulesLoaded() } diff --git a/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenCopyTest.groovy b/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenCopyTest.groovy index e447adcc1..e157a4c98 100644 --- a/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenCopyTest.groovy +++ b/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenCopyTest.groovy @@ -11,17 +11,14 @@ import gov.hhs.cdc.trustedintermediary.wrappers.Logger import gov.hhs.cdc.trustedintermediary.wrappers.formatter.Formatter import spock.lang.Specification -import java.nio.file.Files -import java.nio.file.Path - class GoldenCopyTest extends Specification { List azureFiles List localFiles - AssertionRuleEngine engine HapiHL7FileMatcher fileMatcher Logger mockLogger = Mock(Logger) List loggedErrorsAndWarnings = [] + List failedFiles = [] def setup() { fileMatcher = HapiHL7FileMatcher.getInstance() @@ -44,10 +41,10 @@ class GoldenCopyTest extends Specification { } FileFetcher azureFileFetcher = AzureBlobFileFetcher.getInstance() - azureFiles = azureFileFetcher.fetchFiles() + azureFiles = azureFileFetcher.fetchFiles(false) FileFetcher localFileFetcher = LocalFileFetcher.getInstance() - localFiles = localFileFetcher.fetchFiles() + localFiles = localFileFetcher.fetchFiles(false) } def cleanup() { @@ -66,36 +63,26 @@ class GoldenCopyTest extends Specification { // If we do use the rules engine, see if its possible to compare the whole file as a rule rather than individual segments // Update Automated Test README - // compare with known good file - // def matchedFiles = fileMatcher.matchFiles(azureFiles, localFiles) + // Add a sub folder to /Golden for inputFile - this is so we can get the actual output, we won't use this + // Add a sub folder to /Golden for expectedFileOutput - this is 'hard-coded' and shouldnt change + // make sure to update folder paths in workflow given: def matchedFiles = fileMatcher.matchFiles(azureFiles, localFiles) when: - for (messagePair in matchedFiles) { - def inputMessage = messagePair.getKey() - def outputMessage = messagePair.getValue() - // def evaluatedRules = engine.runRules(outputMessage, inputMessage) - // rulesToEvaluate.removeAll(evaluatedRules) + for (filePair in matchedFiles) { + def actualFile = filePair.getKey() + def expectedFile = filePair.getValue() + if (!actualFile.equals(expectedFile)) { + failedFiles.add(expectedFile) + } } then: - rulesToEvaluate.collect { it.name }.isEmpty() //Check whether all the rules in the assertions file have been run + assertTrue(failedFiles.isEmpty()) if (!loggedErrorsAndWarnings.isEmpty()) { throw new AssertionError("Unexpected errors and/or warnings were logged:\n- ${loggedErrorsAndWarnings.join('\n- ')}") } - - - given: - def beforeFileJsonFileString = Files.readString(Path.of("../examples/Test/Automated/golden_actual.hl7")) - def afterFileJsonFileString = Files.readString(Path.of("../examples/Test/Automated/golden_expected.hl7")) - - - when: - def filesAreIdentical = beforeFileJsonFileString == afterFileJsonFileString - - then: - assert filesAreIdentical, "test" } } From 87dbc14f34921c3a361b6bf7304b01334b050f23 Mon Sep 17 00:00:00 2001 From: James Herr Date: Tue, 17 Dec 2024 14:39:05 -0600 Subject: [PATCH 08/61] Removed comments Co-Authored-By: Samuel Aquino Co-Authored-By: Bella L. Quintero <96704946+pluckyswan@users.noreply.github.com> --- .../gov/hhs/cdc/trustedintermediary/rse2e/LocalFileFetcher.java | 2 -- 1 file changed, 2 deletions(-) diff --git a/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/LocalFileFetcher.java b/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/LocalFileFetcher.java index 0a2232ed0..d7a3fb8ec 100644 --- a/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/LocalFileFetcher.java +++ b/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/LocalFileFetcher.java @@ -29,8 +29,6 @@ public static FileFetcher getInstance() { @Override public List fetchFiles(boolean isAutomatedTest) { if (!isAutomatedTest) { - // there might be problems with this as file_path is static; I'd need to do some more - // digging to be sure files_path = "../examples/Test/Automated/Golden/"; } try (Stream stream = Files.walk(Paths.get(files_path))) { From 5bef9f09b81666eb902ec798ba293995fa289637 Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Wed, 18 Dec 2024 15:08:48 -0700 Subject: [PATCH 09/61] add input files and delete unused input files Co-authored-by: saquino0827 --- ...001_ORU_R01_golden_copy_input_acylc_1.hl7} | 2 +- .../002_ORU_R01_golden_copy_input_acylc_2.hl7 | 142 ++++++++++++++++++ ...3_ORU_R01_golden_copy_input_aa_unusual.hl7 | 142 ++++++++++++++++++ ...004_ORU_R01_golden_copy_input_in_range.hl7 | 142 ++++++++++++++++++ ...ORU_R01_golden_copy_input_out_of_range.hl7 | 142 ++++++++++++++++++ examples/Test/Automated/golden_actual.hl7 | 1 - examples/Test/Automated/golden_expected.hl7 | 1 - 7 files changed, 569 insertions(+), 3 deletions(-) rename examples/Test/Automated/{Golden/Acylcarnitine - Indeterminate - SCADD - IBCDD patterns.hl7 => GoldenCopy/Input/001_ORU_R01_golden_copy_input_acylc_1.hl7} (98%) create mode 100644 examples/Test/Automated/GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 create mode 100644 examples/Test/Automated/GoldenCopy/Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 create mode 100644 examples/Test/Automated/GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 create mode 100644 examples/Test/Automated/GoldenCopy/Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 delete mode 100644 examples/Test/Automated/golden_actual.hl7 delete mode 100644 examples/Test/Automated/golden_expected.hl7 diff --git a/examples/Test/Automated/Golden/Acylcarnitine - Indeterminate - SCADD - IBCDD patterns.hl7 b/examples/Test/Automated/GoldenCopy/Input/001_ORU_R01_golden_copy_input_acylc_1.hl7 similarity index 98% rename from examples/Test/Automated/Golden/Acylcarnitine - Indeterminate - SCADD - IBCDD patterns.hl7 rename to examples/Test/Automated/GoldenCopy/Input/001_ORU_R01_golden_copy_input_acylc_1.hl7 index 048d8fe6f..833ef6d16 100644 --- a/examples/Test/Automated/Golden/Acylcarnitine - Indeterminate - SCADD - IBCDD patterns.hl7 +++ b/examples/Test/Automated/GoldenCopy/Input/001_ORU_R01_golden_copy_input_acylc_1.hl7 @@ -1,4 +1,4 @@ -MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9413816^L,M,N|^1477542173^L,M,N|20241015050654||ORU^R01^ORU_R01|244028180|P|2.5.1\r +MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9413816^L,M,N|^1477542173^L,M,N|20241015050654||ORU^R01^ORU_R01|001|P|2.5.1\r PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** NK1|1|*****PII REMOVED****** ORC|RE|673678765^FormNumber||M17965^HospOrdNumber||||||||1477542173^BROOKS^STEWART^^^^^^^NPI|||||||||CEDARS-SINAI MEDICAL CENTER^^^^^^^^^R150|8700 BEVERLY BLVD^^W HOLLYWOOD^CA^90048-1804\r diff --git a/examples/Test/Automated/GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 b/examples/Test/Automated/GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 new file mode 100644 index 000000000..2594c49b0 --- /dev/null +++ b/examples/Test/Automated/GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 @@ -0,0 +1,142 @@ +MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9413816^L,M,N|^1194257170^L,M,N|20241018050234||ORU^R01^ORU_R01|002|P|2.5.1\r +PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** +NK1|1|*****PII REMOVED****** +ORC|RE|12345667867^FormNumber||S30500^HospOrdNumber||||||||1194257170^MAHMOOD^SARAH^^^^^^^NPI|||||||||CEDARS-SINAI MEDICAL CENTER^^^^^^^^^R150|8700 BEVERLY BLVD^^W HOLLYWOOD^CA^90048-1804\r +OBR|1|12345667867^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410061300|||||||||||||||20241018050234|||F\r +OBR|2|12345667867^FormNumber||57128-1^Newborn Screening Report summary panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241018050234\r +OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241018050234\r +OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241018050234\r +OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241018050234\r +OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241018050234\r +OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - LONG BEACH MEMORIAL MEDICAL CENTER \\R\\3747 LONG BEACH BLVD, LONG BEACH, CA 90807-3309\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Acyl Carnitine Panel: An immediate referral to a CCS Metabolic Center is strongly recommended. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at UCLA Medical Center at (310) 826-4458. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241018050234\r +OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241018050234\r +OBR|3|12345667867^FormNumber||57717-1^Newborn screen card data panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241018050234\r +OBX|2|NM|8339-4^Birthweight^LN|1|3135|grams||N|||F|||20241018050234\r +OBX|3|TM|57715-5^Time of birth^LN|1|1235|||N|||F|||20241018050234\r +OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241018050234\r +OBX|5|NM|73806-2^Newborn age in hours^LN|1|24|hour(s)||N|||F|||20241018050234\r +OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241018050234\r +OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241018050234\r +OBX|8|TX|^^^99717-5^Accession Number^L|1|282-18-014/21-2024-32|||N|||F|||20241018050234\r +OBX|9|TX|62324-9^Post-discharge provider name^LN|1|SARAH MAHMOOD|||N|||F|||20241018050234\r +OBX|10|TX|62325-6^Post-discharge provider practice ID^LN|1|1194257170|||N|||F|||20241018050234\r +OBX|11|TX|62327-2^Post-discharge provider practice address^LN|1|8700 BEVERLY BLVD W HOLLYWOOD CA 90048-1804 USA|||N|||F|||20241018050234\r +OBR|4|12345667867^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410061300|||||||||||||||20241018050234|||F\r +OBR|5|12345667867^FormNumber||53261-4^Amino acid newborn screen panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|611|µmol/L||N|||F|||20241018050234\r +OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|585|µmol/L|<1000|N|||F|||20241018050234\r +OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|90.9|µmol/L||N|||F|||20241018050234\r +OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.74808|{Ratio}|<4.3|N|||F|||20241018050234\r +OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|86.9|µmol/L|<230|N|||F|||20241018050234\r +OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.15|{Ratio}|<1.35|N|||F|||20241018050234\r +OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|52.0|µmol/L|<175|N|||F|||20241018050234\r +OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241018050234\r +OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|69.0|µmol/L|<680|N|||F|||20241018050234\r +OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.23|µmol/L|<6.1|N|||F|||20241018050234\r +OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|22.5|µmol/L|6.3-100|N|||F|||20241018050234\r +OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|14|µmol/L|5-49|N|||F|||20241018050234\r +OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|2.28|{Ratio}|<4.8|N|||F|||20241018050234\r +OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|68|µmol/L|<800|N|||F|||20241018050234\r +OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|4.93|{Ratio}||N|||F|||20241018050234\r +OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|6|µmol/L|<63|N|||F|||20241018050234\r +OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.09|{Ratio}|<1.9|N|||F|||20241018050234\r +OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|192|µmol/L|<1500|N|||F|||20241018050234\r +OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050234\r +OBR|6|12345667867^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA11884-6^Indeterminate^LN|||A|||F|||20241018050234\r +OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|This pattern of elevations is consistent with SCADD, IBCDD|||A|||F|||20241018050234\r +OBR|7|12345667867^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|26.6|µmol/L|6.4-125|N|||F|||20241018050234\r +OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|3.27|{Ratio}|<70|N|||F|||20241018050234\r +OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|29.2|µmol/L|10-80|N|||F|||20241018050234\r +OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|2.13913|{Ratio}|<7.6|N|||F|||20241018050234\r +OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.088|µmol/L|<0.95|N|||F|||20241018050234\r +OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.084|µmol/L|<0.45|N|||F|||20241018050234\r +OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.73|{Ratio}||N|||F|||20241018050234\r +OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.172|µmol/L|<0.65|N|||F|||20241018050234\r +OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.115|µmol/L|<0.65|N|||F|||20241018050234\r +OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.050|µmol/L|<0.45|N|||F|||20241018050234\r +OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.127|µmol/L|<2|N|||F|||20241018050234\r +OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.12|µmol/L||N|||F|||20241018050234\r +OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.333|µmol/L|<1.2|N|||F|||20241018050234\r +OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.132|µmol/L|<0.9|N|||F|||20241018050234\r +OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.13|{Ratio}||N|||F|||20241018050234\r +OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.02|µmol/L||N|||F|||20241018050234\r +OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.026|µmol/L|<0.2|N|||F|||20241018050234\r +OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|6.19|µmol/L|<12|N|||F|||20241018050234\r +OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.445|µmol/L|<1.4|N|||F|||20241018050234\r +OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.045|µmol/L|<0.1|N|||F|||20241018050234\r +OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00727|{Ratio}|<0.07|N|||F|||20241018050234\r +OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|1.53|µmol/L|<3.5|N|||F|||20241018050234\r +OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.96|µmol/L|<7|N|||F|||20241018050234\r +OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.21|µmol/L||N|||F|||20241018050234\r +OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.017|µmol/L|<0.1|N|||F|||20241018050234\r +OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.036|µmol/L|<0.1|N|||F|||20241018050234\r +OBR|8|12345667867^FormNumber||57085-3^Organic acid newborn screen panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|2.5|µmol/L|<7.9|N|||F|||20241018050234\r +OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.09|{Ratio}|<0.42|N|||F|||20241018050234\r +OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.246|µmol/L|<0.48|N|||F|||20241018050234\r +OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|1.72|µmol/L|<1.7|H|||F|||20241018050234\r +OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.115|µmol/L|<0.95|N|||F|||20241018050234\r +OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.04600|{Ratio}|<0.38|N|||F|||20241018050234\r +OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.008|µmol/L|<0.5|N|||F|||20241018050234\r +OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.232|µmol/L|<1.15|N|||F|||20241018050234\r +OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.180|µmol/L|<0.38|N|||F|||20241018050234\r +OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.73171|{Ratio}|>0.1|N|||F|||20241018050234\r +OBR|9|12345667867^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|21.20|ng/mL|<69|N|||F|||20241018050234\r +OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r +OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050234\r +OBR|10|12345667867^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00015.6|nmol/L|<85|N|||F|||20241018050234\r +OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r +OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234\r +OBR|11|12345667867^FormNumber||54090-6^Thyroid newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|NM|29575-8^Thyrotropin^LN|1|9.50|mIU/L|<29|N|||F|||20241018050234\r +OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r +OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234\r +OBR|12|12345667867^FormNumber||54079-9^Galactosemia newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|262.95|enzyme units|>50|N|||F|||20241018050234\r +OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r +OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234\r +OBR|13|12345667867^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241018050234\r +OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241018050234\r +OBR|14|12345667867^FormNumber||57087-9^Biotinidase newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|49.77|ERU|>10|N|||F|||20241018050234\r +OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r +OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234\r +OBR|15|12345667867^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|197|copies/µL|>18|N|||F|||20241018050234\r +OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r +OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234\r +OBR|16|12345667867^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.29|µmol/L/h|>=1.47|N|||F|||20241018050234\r +OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r +OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241018050234\r +OBR|17|12345667867^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|13.01|µmol/L/h|>=0.82|N|||F|||20241018050234\r +OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r +OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234\r +OBR|18|12345667867^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241018050234\r +OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r +OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241018050234\r +OBR|19|12345667867^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|27.84|µmol/L/h|>=2.79|N|||F|||20241018050234\r +OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r +OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234\r +OBR|20|12345667867^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r +OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241018050234\r +OBR|21|12345667867^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|0.97|µmol/L|<=3|N|||F|||20241018050234\r +OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|496.63|µmol/L||N|||F|||20241018050234\r +OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|1.95||<=6|N|||F|||20241018050234\r +OBR|22|12345667867^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r +OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241018050234\r +OBR|23|12345667867^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.349|µmol/L|<0.47|N|||F|||20241018050234\r diff --git a/examples/Test/Automated/GoldenCopy/Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 b/examples/Test/Automated/GoldenCopy/Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 new file mode 100644 index 000000000..01ec6acd7 --- /dev/null +++ b/examples/Test/Automated/GoldenCopy/Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 @@ -0,0 +1,142 @@ +MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9414049^L,M,N|^1043390461^L,M,N|20241023050044||ORU^R01^ORU_R01|003|P|2.5.1\r +PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** +NK1|1|*****PII REMOVED****** +ORC|RE|45789876^FormNumber||56352742^HospOrdNumber||||||||1043390461^PROFIT^DR JOCHEN^^^^^^^NPI|||||||||STANFORD/LUCILE PACKARD CHILDREN'S HOSPI^^^^^^^^^R777|725 WELCH RD, RM H1524^^PALO ALTO^CA^94304-1601\r +OBR|1|45789876^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBR|2|45789876^FormNumber||57128-1^Newborn Screening Report summary panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241023050044\r +OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241023050044\r +OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241023050044\r +OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241023050044\r +OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241023050044\r +OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - ALLIED LABORATORY \\R\\453 RAVENDALE DR, STE B, MOUNTAIN VIEW, CA 94043-5221\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Amino Acid Panel: An immediate referral to a CCS Metabolic Center is strongly recommended. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Stanford University Medical Center at (650) 724-8120. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241023050044\r +OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241023050044\r +OBR|3|45789876^FormNumber||57717-1^Newborn screen card data panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241023050044\r +OBX|2|NM|8339-4^Birthweight^LN|1|2230|grams||N|||F|||20241023050044\r +OBX|3|TM|57715-5^Time of birth^LN|1|1358|||N|||F|||20241023050044\r +OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12412-5^Twins^LN|||N|||F|||20241023050044\r +OBX|5|NM|73806-2^Newborn age in hours^LN|1|26|hour(s)||N|||F|||20241023050044\r +OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241023050044\r +OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241023050044\r +OBX|8|TX|^^^99717-5^Accession Number^L|1|282-38-261/21-2024-12|||N|||F|||20241023050044\r +OBX|9|TX|62324-9^Post-discharge provider name^LN|1|DR JOCHEN PROFIT|||N|||F|||20241023050044\r +OBX|10|TX|62325-6^Post-discharge provider practice ID^LN|1|1043390461|||N|||F|||20241023050044\r +OBX|11|TX|62327-2^Post-discharge provider practice address^LN|1|725 WELCH RD, RM H1524 PALO ALTO CA 94304-1601 USA|||N|||F|||20241023050044\r +OBR|4|45789876^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBR|5|45789876^FormNumber||53261-4^Amino acid newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|368|µmol/L||N|||F|||20241023050044\r +OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|310|µmol/L|<1000|N|||F|||20241023050044\r +OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|34.6|µmol/L||N|||F|||20241023050044\r +OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.06462|{Ratio}|<4.3|N|||F|||20241023050044\r +OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|50.7|µmol/L|<230|N|||F|||20241023050044\r +OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.16|{Ratio}|<1.35|N|||F|||20241023050044\r +OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|32.5|µmol/L|<175|N|||F|||20241023050044\r +OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.13|{Ratio}|<2.6|N|||F|||20241023050044\r +OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|28.9|µmol/L|<680|N|||F|||20241023050044\r +OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.25|µmol/L|<6.1|N|||F|||20241023050044\r +OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|8.6|µmol/L|6.3-100|N|||F|||20241023050044\r +OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|5|µmol/L|5-49|N|||F|||20241023050044\r +OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|1.67|{Ratio}|<4.8|N|||F|||20241023050044\r +OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|32|µmol/L|<800|N|||F|||20241023050044\r +OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|6.41|{Ratio}||N|||F|||20241023050044\r +OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|3|µmol/L|<63|N|||F|||20241023050044\r +OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.09|{Ratio}|<1.9|N|||F|||20241023050044\r +OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|55|µmol/L|<1500|N|||F|||20241023050044\r +OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|This complex pattern of elevations require further evaluation|||A|||F|||20241023050044\r +OBR|6|45789876^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r +OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241023050044\r +OBR|7|45789876^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|34.9|µmol/L|6.4-125|N|||F|||20241023050044\r +OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|7.84|{Ratio}|<70|N|||F|||20241023050044\r +OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|28.1|µmol/L|10-80|N|||F|||20241023050044\r +OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|3.53125|{Ratio}|<7.6|N|||F|||20241023050044\r +OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.034|µmol/L|<0.95|N|||F|||20241023050044\r +OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.038|µmol/L|<0.45|N|||F|||20241023050044\r +OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|1.19|{Ratio}||N|||F|||20241023050044\r +OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.155|µmol/L|<0.65|N|||F|||20241023050044\r +OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.032|µmol/L|<0.65|N|||F|||20241023050044\r +OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.030|µmol/L|<0.45|N|||F|||20241023050044\r +OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.070|µmol/L|<2|N|||F|||20241023050044\r +OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.05|µmol/L||N|||F|||20241023050044\r +OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.270|µmol/L|<1.2|N|||F|||20241023050044\r +OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.084|µmol/L|<0.9|N|||F|||20241023050044\r +OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.75|{Ratio}||N|||F|||20241023050044\r +OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.02|µmol/L||N|||F|||20241023050044\r +OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.009|µmol/L|<0.2|N|||F|||20241023050044\r +OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|2.87|µmol/L|<12|N|||F|||20241023050044\r +OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.236|µmol/L|<1.4|N|||F|||20241023050044\r +OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.022|µmol/L|<0.1|N|||F|||20241023050044\r +OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00767|{Ratio}|<0.07|N|||F|||20241023050044\r +OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|0.987|µmol/L|<3.5|N|||F|||20241023050044\r +OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.59|µmol/L|<7|N|||F|||20241023050044\r +OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.20|µmol/L||N|||F|||20241023050044\r +OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.014|µmol/L|<0.1|N|||F|||20241023050044\r +OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.034|µmol/L|<0.1|N|||F|||20241023050044\r +OBR|8|45789876^FormNumber||57085-3^Organic acid newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|1.9|µmol/L|<7.9|N|||F|||20241023050044\r +OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.07|{Ratio}|<0.42|N|||F|||20241023050044\r +OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.113|µmol/L|<0.48|N|||F|||20241023050044\r +OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.161|µmol/L|<1.7|N|||F|||20241023050044\r +OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.111|µmol/L|<0.95|N|||F|||20241023050044\r +OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.05842|{Ratio}|<0.38|N|||F|||20241023050044\r +OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.006|µmol/L|<0.5|N|||F|||20241023050044\r +OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.140|µmol/L|<1.15|N|||F|||20241023050044\r +OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.091|µmol/L|<0.38|N|||F|||20241023050044\r +OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.80531|{Ratio}|>0.1|N|||F|||20241023050044\r +OBR|9|45789876^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|27.50|ng/mL|<69|N|||F|||20241023050044\r +OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r +OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241023050044\r +OBR|10|45789876^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00029.9|nmol/L|<190|N|||F|||20241023050044\r +OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r +OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044\r +OBR|11|45789876^FormNumber||54090-6^Thyroid newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|NM|29575-8^Thyrotropin^LN|1|6.90|mIU/L|<29|N|||F|||20241023050044\r +OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r +OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044\r +OBR|12|45789876^FormNumber||54079-9^Galactosemia newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|226.51|enzyme units|>50|N|||F|||20241023050044\r +OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r +OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044\r +OBR|13|45789876^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241023050044\r +OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241023050044\r +OBR|14|45789876^FormNumber||57087-9^Biotinidase newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|28.87|ERU|>10|N|||F|||20241023050044\r +OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r +OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044\r +OBR|15|45789876^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|198|copies/µL|>18|N|||F|||20241023050044\r +OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r +OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044\r +OBR|16|45789876^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|7.91|µmol/L/h|>=1.62|N|||F|||20241023050044\r +OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r +OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241023050044\r +OBR|17|45789876^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|7.78|µmol/L/h|>=0.79|N|||F|||20241023050044\r +OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r +OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044\r +OBR|18|45789876^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241023050044\r +OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r +OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241023050044\r +OBR|19|45789876^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.94|µmol/L/h|>=2.95|N|||F|||20241023050044\r +OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r +OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044\r +OBR|20|45789876^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r +OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241023050044\r +OBR|21|45789876^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.00|µmol/L|<=3|N|||F|||20241023050044\r +OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|707.37|µmol/L||N|||F|||20241023050044\r +OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|1.41||<=6|N|||F|||20241023050044\r +OBR|22|45789876^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r +OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241023050044\r +OBR|23|45789876^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.246|µmol/L|<0.47|N|||F|||20241023050044\r diff --git a/examples/Test/Automated/GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 b/examples/Test/Automated/GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 new file mode 100644 index 000000000..47e9e7c81 --- /dev/null +++ b/examples/Test/Automated/GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 @@ -0,0 +1,142 @@ +MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^1447323951^L,M,N|20241030050154||ORU^R01^ORU_R01|004|P|2.5.1\r +PID|1||335441864^^^104638912487&NPI^MR||*****PII REMOVED****** +NK1|1|*****PII REMOVED****** +ORC|RE|356672001^FormNumber||629813494^HospOrdNumber||||||||1093050858^SILVA^RICHARD^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|200 W ARBOR DR^^SAN DIEGO^CA^92103-1911\r +OBR|1|356672001^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBR|2|356672001^FormNumber||57128-1^Newborn Screening Report summary panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241030050154\r +OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241030050154\r +OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA12428-1^All screening is in range for the conditions tested^LN|||N|||F|||20241030050154\r +OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241030050154\r +OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241030050154\r +OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \\R\\2130 E Illinois Avenue, FRESNO, CA 93701\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (858) 966-8708. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241030050154\r +OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241030050154\r +OBR|3|356672001^FormNumber||57717-1^Newborn screen card data panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241030050154\r +OBX|2|NM|8339-4^Birthweight^LN|1|3464|grams||N|||F|||20241030050154\r +OBX|3|TM|57715-5^Time of birth^LN|1|0444|||N|||F|||20241030050154\r +OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241030050154\r +OBX|5|NM|73806-2^Newborn age in hours^LN|1|19|hour(s)||N|||F|||20241030050154\r +OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241030050154\r +OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241030050154\r +OBX|8|TX|^^^99717-5^Accession Number^L|1|292-04-123/21-2024-32|||N|||F|||20241030050154\r +OBX|9|TX|62324-9^Post-discharge provider name^LN|1|DIANE BEDROSIAN|||N|||F|||20241030050154\r +OBX|10|TX|62325-6^Post-discharge provider practice ID^LN|1|1447323951|||N|||F|||20241030050154\r +OBX|11|TX|62327-2^Post-discharge provider practice address^LN|1|200 W ARBOR DR SAN DIEGO CA 92103-1911 USA|||N|||F|||20241030050154\r +OBR|4|356672001^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBR|5|356672001^FormNumber||53261-4^Amino acid newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|536|µmol/L||N|||F|||20241030050154\r +OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|559|µmol/L|<1000|N|||F|||20241030050154\r +OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|123|µmol/L||N|||F|||20241030050154\r +OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|2.14286|{Ratio}|<4.3|N|||F|||20241030050154\r +OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|113|µmol/L|<230|N|||F|||20241030050154\r +OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.20|{Ratio}|<1.35|N|||F|||20241030050154\r +OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|57.4|µmol/L|<175|N|||F|||20241030050154\r +OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.05|{Ratio}|<2.6|N|||F|||20241030050154\r +OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|54.8|µmol/L|<680|N|||F|||20241030050154\r +OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.20|µmol/L|<6.1|N|||F|||20241030050154\r +OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|22.8|µmol/L|6.3-100|N|||F|||20241030050154\r +OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|10|µmol/L|5-49|N|||F|||20241030050154\r +OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|1.52|{Ratio}|<4.8|N|||F|||20241030050154\r +OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|84|µmol/L|<800|N|||F|||20241030050154\r +OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|8.40|{Ratio}||N|||F|||20241030050154\r +OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|7|µmol/L|<63|N|||F|||20241030050154\r +OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.08|{Ratio}|<1.9|N|||F|||20241030050154\r +OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|154|µmol/L|<1500|N|||F|||20241030050154\r +OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241030050154\r +OBR|6|356672001^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r +OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241030050154\r +OBR|7|356672001^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|24.4|µmol/L|6.4-125|N|||F|||20241030050154\r +OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|4.32|{Ratio}|<70|N|||F|||20241030050154\r +OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|27.3|µmol/L|10-80|N|||F|||20241030050154\r +OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|2.73000|{Ratio}|<7.6|N|||F|||20241030050154\r +OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.067|µmol/L|<0.95|N|||F|||20241030050154\r +OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.076|µmol/L|<0.45|N|||F|||20241030050154\r +OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.76|{Ratio}||N|||F|||20241030050154\r +OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.103|µmol/L|<0.65|N|||F|||20241030050154\r +OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.100|µmol/L|<0.65|N|||F|||20241030050154\r +OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.035|µmol/L|<0.45|N|||F|||20241030050154\r +OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.132|µmol/L|<2|N|||F|||20241030050154\r +OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.17|µmol/L||N|||F|||20241030050154\r +OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.264|µmol/L|<1.2|N|||F|||20241030050154\r +OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.189|µmol/L|<0.9|N|||F|||20241030050154\r +OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.13|{Ratio}||N|||F|||20241030050154\r +OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.03|µmol/L||N|||F|||20241030050154\r +OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.021|µmol/L|<0.2|N|||F|||20241030050154\r +OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|3.88|µmol/L|<12|N|||F|||20241030050154\r +OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.371|µmol/L|<1.4|N|||F|||20241030050154\r +OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.030|µmol/L|<0.1|N|||F|||20241030050154\r +OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00773|{Ratio}|<0.07|N|||F|||20241030050154\r +OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|1.11|µmol/L|<3.5|N|||F|||20241030050154\r +OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.76|µmol/L|<7|N|||F|||20241030050154\r +OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.15|µmol/L||N|||F|||20241030050154\r +OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.015|µmol/L|<0.1|N|||F|||20241030050154\r +OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.032|µmol/L|<0.1|N|||F|||20241030050154\r +OBR|8|356672001^FormNumber||57085-3^Organic acid newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|2.3|µmol/L|<7.9|N|||F|||20241030050154\r +OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.09|{Ratio}|<0.42|N|||F|||20241030050154\r +OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.273|µmol/L|<0.48|N|||F|||20241030050154\r +OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.315|µmol/L|<1.7|N|||F|||20241030050154\r +OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.117|µmol/L|<0.95|N|||F|||20241030050154\r +OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.05087|{Ratio}|<0.38|N|||F|||20241030050154\r +OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.009|µmol/L|<0.5|N|||F|||20241030050154\r +OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.217|µmol/L|<1.15|N|||F|||20241030050154\r +OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.183|µmol/L|<0.38|N|||F|||20241030050154\r +OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.67033|{Ratio}|>0.1|N|||F|||20241030050154\r +OBR|9|356672001^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|27.20|ng/mL|<69|N|||F|||20241030050154\r +OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r +OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241030050154\r +OBR|10|356672001^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00015.2|nmol/L|<85|N|||F|||20241030050154\r +OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r +OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154\r +OBR|11|356672001^FormNumber||54090-6^Thyroid newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|NM|29575-8^Thyrotropin^LN|1|15.40|mIU/L|<29|N|||F|||20241030050154\r +OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r +OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154\r +OBR|12|356672001^FormNumber||54079-9^Galactosemia newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|273.54|enzyme units|>50|N|||F|||20241030050154\r +OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r +OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154\r +OBR|13|356672001^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241030050154\r +OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241030050154\r +OBR|14|356672001^FormNumber||57087-9^Biotinidase newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|73.00|ERU|>10|N|||F|||20241030050154\r +OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r +OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154\r +OBR|15|356672001^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|120|copies/µL|>18|N|||F|||20241030050154\r +OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r +OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154\r +OBR|16|356672001^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|11.43|µmol/L/h|>=1.54|N|||F|||20241030050154\r +OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r +OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241030050154\r +OBR|17|356672001^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|9.33|µmol/L/h|>=0.86|N|||F|||20241030050154\r +OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r +OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154\r +OBR|18|356672001^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241030050154\r +OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r +OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241030050154\r +OBR|19|356672001^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|22.31|µmol/L/h|>=2.84|N|||F|||20241030050154\r +OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r +OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154\r +OBR|20|356672001^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r +OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241030050154\r +OBR|21|356672001^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.22|µmol/L|<=3|N|||F|||20241030050154\r +OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|411.55|µmol/L||N|||F|||20241030050154\r +OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|2.95||<=6|N|||F|||20241030050154\r +OBR|22|356672001^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r +OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241030050154\r +OBR|23|356672001^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.138|µmol/L|<0.47|N|||F|||20241030050154\r diff --git a/examples/Test/Automated/GoldenCopy/Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 b/examples/Test/Automated/GoldenCopy/Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 new file mode 100644 index 000000000..70305c7dc --- /dev/null +++ b/examples/Test/Automated/GoldenCopy/Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 @@ -0,0 +1,142 @@ +MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9414049^L,M,N|^^L,M,N|20241018050017||ORU^R01^ORU_R01|005|P|2.5.1\r +PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** +NK1|1|*****PII REMOVED****** +ORC|RE|753234567^FormNumber||56155532^HospOrdNumber||||||||^SCALA^MELISSA|||||||||STANFORD/LUCILE PACKARD CHILDREN'S HOSPI^^^^^^^^^R777|725 WELCH RD, RM H1524^^PALO ALTO^CA^94304-1601\r +OBR|1|753234567^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBR|1|753234567^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBR|2|753234567^FormNumber||57128-1^Newborn Screening Report summary panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241018050017\r +OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241018050017\r +OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241018050017\r +OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA16207-5^Hemoglobinopathies^LN|||N|||F|||20241018050017\r +OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241018050017\r +OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - ALLIED LABORATORY \\R\\453 RAVENDALE DR, STE B, MOUNTAIN VIEW, CA 94043-5221\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Hb: An immediate referral to a CCS Hematology Center or a pediatric hematologist familiar with alpha thalassemia and Hb H disease is strongly recommended for this infant. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Stanford University Medical Center at (650) 724-8120. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241018050017\r +OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241018050017\r +OBR|3|753234567^FormNumber||57717-1^Newborn screen card data panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241018050017\r +OBX|2|NM|8339-4^Birthweight^LN|1|2658|grams||N|||F|||20241018050017\r +OBX|3|TM|57715-5^Time of birth^LN|1|0027|||N|||F|||20241018050017\r +OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241018050017\r +OBX|5|NM|73806-2^Newborn age in hours^LN|1|28|hour(s)||N|||F|||20241018050017\r +OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241018050017\r +OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241018050017\r +OBX|8|TX|^^^99717-5^Accession Number^L|1|272-95-009/21-2024-12|||N|||F|||20241018050017\r +OBX|9|TX|62324-9^Post-discharge provider name^LN|1|MELISSA SCALA|||N|||F|||20241018050017\r +OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|725 WELCH RD, RM H1524 PALO ALTO CA 94304-1601 USA|||N|||F|||20241018050017\r +OBR|4|753234567^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBR|5|753234567^FormNumber||53261-4^Amino acid newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|926|µmol/L||N|||F|||20241018050017\r +OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|588|µmol/L|<1000|N|||F|||20241018050017\r +OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|79.4|µmol/L||N|||F|||20241018050017\r +OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.29739|{Ratio}|<4.3|N|||F|||20241018050017\r +OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|99.2|µmol/L|<230|N|||F|||20241018050017\r +OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.17|{Ratio}|<1.35|N|||F|||20241018050017\r +OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|61.2|µmol/L|<175|N|||F|||20241018050017\r +OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.77|{Ratio}|<2.6|N|||F|||20241018050017\r +OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|34.7|µmol/L|<680|N|||F|||20241018050017\r +OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.33|µmol/L|<6.1|N|||F|||20241018050017\r +OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|20.4|µmol/L|6.3-100|N|||F|||20241018050017\r +OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|10|µmol/L|5-49|N|||F|||20241018050017\r +OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|2.79|{Ratio}|<4.8|N|||F|||20241018050017\r +OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|43|µmol/L|<800|N|||F|||20241018050017\r +OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|4.44|{Ratio}||N|||F|||20241018050017\r +OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|3|µmol/L|<63|N|||F|||20241018050017\r +OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.08|{Ratio}|<1.9|N|||F|||20241018050017\r +OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|187|µmol/L|<1500|N|||F|||20241018050017\r +OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050017\r +OBR|6|753234567^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r +OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050017\r +OBR|7|753234567^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|39.6|µmol/L|6.4-125|N|||F|||20241018050017\r +OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|5.35|{Ratio}|<70|N|||F|||20241018050017\r +OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|34.7|µmol/L|10-80|N|||F|||20241018050017\r +OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|3.27536|{Ratio}|<7.6|N|||F|||20241018050017\r +OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.100|µmol/L|<0.95|N|||F|||20241018050017\r +OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.075|µmol/L|<0.45|N|||F|||20241018050017\r +OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|1.09|{Ratio}||N|||F|||20241018050017\r +OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.163|µmol/L|<0.65|N|||F|||20241018050017\r +OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.069|µmol/L|<0.65|N|||F|||20241018050017\r +OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.057|µmol/L|<0.45|N|||F|||20241018050017\r +OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.118|µmol/L|<2|N|||F|||20241018050017\r +OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.06|µmol/L||N|||F|||20241018050017\r +OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.394|µmol/L|<1.2|N|||F|||20241018050017\r +OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.130|µmol/L|<0.9|N|||F|||20241018050017\r +OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|2.32|{Ratio}||N|||F|||20241018050017\r +OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.03|µmol/L||N|||F|||20241018050017\r +OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.026|µmol/L|<0.2|N|||F|||20241018050017\r +OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5.52|µmol/L|<12|N|||F|||20241018050017\r +OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.245|µmol/L|<1.4|N|||F|||20241018050017\r +OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.042|µmol/L|<0.1|N|||F|||20241018050017\r +OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00761|{Ratio}|<0.07|N|||F|||20241018050017\r +OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2.13|µmol/L|<3.5|N|||F|||20241018050017\r +OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.89|µmol/L|<7|N|||F|||20241018050017\r +OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.29|µmol/L||N|||F|||20241018050017\r +OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.032|µmol/L|<0.1|N|||F|||20241018050017\r +OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.047|µmol/L|<0.1|N|||F|||20241018050017\r +OBR|8|753234567^FormNumber||57085-3^Organic acid newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|4.2|µmol/L|<7.9|N|||F|||20241018050017\r +OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.12|{Ratio}|<0.42|N|||F|||20241018050017\r +OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.226|µmol/L|<0.48|N|||F|||20241018050017\r +OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.424|µmol/L|<1.7|N|||F|||20241018050017\r +OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.247|µmol/L|<0.95|N|||F|||20241018050017\r +OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.05881|{Ratio}|<0.38|N|||F|||20241018050017\r +OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.008|µmol/L|<0.5|N|||F|||20241018050017\r +OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.287|µmol/L|<1.15|N|||F|||20241018050017\r +OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.179|µmol/L|<0.38|N|||F|||20241018050017\r +OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.79204|{Ratio}|>0.1|N|||F|||20241018050017\r +OBR|9|753234567^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|18.50|ng/mL|<69|N|||F|||20241018050017\r +OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r +OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050017\r +OBR|10|753234567^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00013.8|nmol/L|<85|N|||F|||20241018050017\r +OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r +OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017\r +OBR|11|753234567^FormNumber||54090-6^Thyroid newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|NM|29575-8^Thyrotropin^LN|1|2.40|mIU/L|<29|N|||F|||20241018050017\r +OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r +OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017\r +OBR|12|753234567^FormNumber||54079-9^Galactosemia newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|293.00|enzyme units|>50|N|||F|||20241018050017\r +OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r +OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017\r +OBR|13|753234567^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA + Barts||||||F|||20241018050017\r +OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|The presence of Hb Barts at a high percentage is consistent with Hb H disease, a clinically significant hemoglobin disorder.||||||F|||20241018050017\r +OBR|14|753234567^FormNumber||57087-9^Biotinidase newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|43.76|ERU|>10|N|||F|||20241018050017\r +OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r +OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017\r +OBR|15|753234567^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|99|copies/µL|>18|N|||F|||20241018050017\r +OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r +OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017\r +OBR|16|753234567^FormNumber||63414-7^Pompe Disease newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|7.09|µmol/L/h|>=1.67|N|||F|||20241018050017\r +OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r +OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241018050017\r +OBR|17|753234567^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|8.33|µmol/L/h|>=0.86|N|||F|||20241018050017\r +OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r +OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017\r +OBR|18|753234567^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241018050017\r +OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r +OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241018050017\r +OBR|19|753234567^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|15.65|µmol/L/h|>=2.8|N|||F|||20241018050017\r +OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r +OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017\r +OBR|20|753234567^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r +OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241018050017\r +OBR|21|753234567^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.05|µmol/L|<=3|N|||F|||20241018050017\r +OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|616.49|µmol/L||N|||F|||20241018050017\r +OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|1.70||<=6|N|||F|||20241018050017\r +OBR|22|753234567^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r +OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241018050017\r +OBR|23|753234567^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.260|µmol/L|<0.47|N|||F|||20241018050017\r diff --git a/examples/Test/Automated/golden_actual.hl7 b/examples/Test/Automated/golden_actual.hl7 deleted file mode 100644 index d00491fd7..000000000 --- a/examples/Test/Automated/golden_actual.hl7 +++ /dev/null @@ -1 +0,0 @@ -1 diff --git a/examples/Test/Automated/golden_expected.hl7 b/examples/Test/Automated/golden_expected.hl7 deleted file mode 100644 index d00491fd7..000000000 --- a/examples/Test/Automated/golden_expected.hl7 +++ /dev/null @@ -1 +0,0 @@ -1 From 83edb87a854c88b49115437c7e75aa7f6f6a6867 Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Wed, 18 Dec 2024 15:12:18 -0700 Subject: [PATCH 10/61] refactor file fetcher and implementation Co-authored-by: saquino0827 --- .../trustedintermediary/rse2e/AzureBlobFileFetcher.java | 2 +- .../hhs/cdc/trustedintermediary/rse2e/FileFetcher.java | 2 +- .../cdc/trustedintermediary/rse2e/LocalFileFetcher.java | 9 ++++----- 3 files changed, 6 insertions(+), 7 deletions(-) diff --git a/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/AzureBlobFileFetcher.java b/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/AzureBlobFileFetcher.java index 8d41d35a4..4d9a3a478 100644 --- a/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/AzureBlobFileFetcher.java +++ b/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/AzureBlobFileFetcher.java @@ -48,7 +48,7 @@ public static FileFetcher getInstance() { } @Override - public List fetchFiles(boolean isAutomated) { + public List fetchFiles() { List relevantFiles = new ArrayList<>(); LocalDate today = LocalDate.now(TIME_ZONE); diff --git a/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/FileFetcher.java b/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/FileFetcher.java index ed4f02943..dcd998148 100644 --- a/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/FileFetcher.java +++ b/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/FileFetcher.java @@ -7,5 +7,5 @@ * of this interface should provide a way to retrieve a list of HL7FileStream objects. */ public interface FileFetcher { - List fetchFiles(boolean isAutomatedTest); + List fetchFiles(); } diff --git a/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/LocalFileFetcher.java b/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/LocalFileFetcher.java index d7a3fb8ec..27b0d3f52 100644 --- a/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/LocalFileFetcher.java +++ b/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/LocalFileFetcher.java @@ -14,8 +14,6 @@ * represents a file fetcher that fetches files from the local file system. */ public class LocalFileFetcher implements FileFetcher { - - private static String files_path = "../examples/Test/Automated/"; private static final String EXTENSION = "hl7"; private static final FileFetcher INSTANCE = new LocalFileFetcher(); @@ -27,9 +25,10 @@ public static FileFetcher getInstance() { } @Override - public List fetchFiles(boolean isAutomatedTest) { - if (!isAutomatedTest) { - files_path = "../examples/Test/Automated/Golden/"; + public List fetchFiles() { + String files_path = System.getenv("LOCAL_FILE_PATH"); + if (files_path == null || files_path.isEmpty()) { + throw new IllegalArgumentException("Environment variable LOCAL_FILE_PATH is not set"); } try (Stream stream = Files.walk(Paths.get(files_path))) { return stream.filter(Files::isRegularFile) From 084387db17f46bde0dee2a3776db24d0951d3ca8 Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Wed, 18 Dec 2024 15:13:11 -0700 Subject: [PATCH 11/61] refactor file fetcher calls --- .../rse2e/AutomatedTest.groovy | 4 ++-- .../rse2e/GoldenCopyTest.groovy | 21 ++++++------------- 2 files changed, 8 insertions(+), 17 deletions(-) diff --git a/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/AutomatedTest.groovy b/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/AutomatedTest.groovy index c51777da6..c1a4d45ab 100644 --- a/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/AutomatedTest.groovy +++ b/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/AutomatedTest.groovy @@ -43,10 +43,10 @@ class AutomatedTest extends Specification { } FileFetcher azureFileFetcher = AzureBlobFileFetcher.getInstance() - azureFiles = azureFileFetcher.fetchFiles(true) + azureFiles = azureFileFetcher.fetchFiles() FileFetcher localFileFetcher = LocalFileFetcher.getInstance() - localFiles = localFileFetcher.fetchFiles(true) + localFiles = localFileFetcher.fetchFiles() engine.ensureRulesLoaded() } diff --git a/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenCopyTest.groovy b/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenCopyTest.groovy index e157a4c98..9b9b2dea3 100644 --- a/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenCopyTest.groovy +++ b/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenCopyTest.groovy @@ -4,7 +4,7 @@ import gov.hhs.cdc.trustedintermediary.context.TestApplicationContext import gov.hhs.cdc.trustedintermediary.external.jackson.Jackson import gov.hhs.cdc.trustedintermediary.rse2e.external.hapi.HapiHL7ExpressionEvaluator import gov.hhs.cdc.trustedintermediary.rse2e.external.hapi.HapiHL7FileMatcher -import gov.hhs.cdc.trustedintermediary.rse2e.ruleengine.AssertionRuleEngine +import gov.hhs.cdc.trustedintermediary.rse2e.external.hapi.HapiHL7Message import gov.hhs.cdc.trustedintermediary.ruleengine.RuleLoader import gov.hhs.cdc.trustedintermediary.wrappers.HealthDataExpressionEvaluator import gov.hhs.cdc.trustedintermediary.wrappers.Logger @@ -41,10 +41,10 @@ class GoldenCopyTest extends Specification { } FileFetcher azureFileFetcher = AzureBlobFileFetcher.getInstance() - azureFiles = azureFileFetcher.fetchFiles(false) + azureFiles = azureFileFetcher.fetchFiles() FileFetcher localFileFetcher = LocalFileFetcher.getInstance() - localFiles = localFileFetcher.fetchFiles(false) + localFiles = localFileFetcher.fetchFiles() } def cleanup() { @@ -54,18 +54,9 @@ class GoldenCopyTest extends Specification { } def "Compare files"() { - // notes: - // Use workflow to sendoff the file (happens via Github Action) - - // Call the automated-staging-test-submit workflow. Prob use a variable for the path of the folder unless we add to same folder. - // Call the automated-staging-test-run workflow. It shouldn't matter if it grabs all Azure files, we can use the MSH-10 to narrow it down like assertion_rules or use something else - // Modify the Rules Engine or create a different one - // If we do use the rules engine, see if its possible to compare the whole file as a rule rather than individual segments // Update Automated Test README - - // Add a sub folder to /Golden for inputFile - this is so we can get the actual output, we won't use this - // Add a sub folder to /Golden for expectedFileOutput - this is 'hard-coded' and shouldnt change - // make sure to update folder paths in workflow + // Currently reusing automated staging test workflows but we might need to pivot for cron schedule + // Get golden copy and input given: def matchedFiles = fileMatcher.matchFiles(azureFiles, localFiles) @@ -80,7 +71,7 @@ class GoldenCopyTest extends Specification { } then: - assertTrue(failedFiles.isEmpty()) + assert failedFiles.isEmpty() if (!loggedErrorsAndWarnings.isEmpty()) { throw new AssertionError("Unexpected errors and/or warnings were logged:\n- ${loggedErrorsAndWarnings.join('\n- ')}") } From 1e4973171ccefa762751db1bf35ea200704bcdba Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Wed, 18 Dec 2024 15:13:39 -0700 Subject: [PATCH 12/61] add env to workflow and rename file path Co-authored-by: saquino0827 --- .../workflows/automated-staging-test-run.yml | 17 +++++++++++++---- .../workflows/automated-staging-test-submit.yml | 2 +- 2 files changed, 14 insertions(+), 5 deletions(-) diff --git a/.github/workflows/automated-staging-test-run.yml b/.github/workflows/automated-staging-test-run.yml index b54b33f51..78d636679 100644 --- a/.github/workflows/automated-staging-test-run.yml +++ b/.github/workflows/automated-staging-test-run.yml @@ -21,19 +21,28 @@ jobs: - name: Check out the repository uses: actions/checkout@v4 - - name: Run automated tests - env: - AZURE_STORAGE_CONNECTION_STRING: ${{ secrets.AUTOMATED_TEST_AZURE_STORAGE_CONNECTION_STRING }} + - name: Determine variable type run: | if [ ${{ github.event.inputs.name }} = "Automated Staging Test" ]; then test_type=automatedTest title=Automated + file_path=../examples/Test/Automated/ else test_type=goldenCopyTest title=Golden Copy + file_path=../examples/Test/Automated/GoldenCopy/Expected/ fi + echo "test_type=test_type" >> $GITHUB_OUTPUT + echo "title=$title" >> $GITHUB_OUTPUT + echo "file_path=file_path" >> $GITHUB_OUTPUT + done + + - name: Run automated tests + env: + AZURE_STORAGE_CONNECTION_STRING: ${{ secrets.AUTOMATED_TEST_AZURE_STORAGE_CONNECTION_STRING }} + LOCAL_FILE_PATH: ${{ steps.getFunctionList.outputs.file_path }} + run: | ./gradlew rs-e2e:clean rs-e2e:$(test_type) - echo "test_type=$test_type" >> $GITHUB_OUTPUT done - name: Send slack notification on test failure diff --git a/.github/workflows/automated-staging-test-submit.yml b/.github/workflows/automated-staging-test-submit.yml index 3c7411d21..60f2a39cb 100644 --- a/.github/workflows/automated-staging-test-submit.yml +++ b/.github/workflows/automated-staging-test-submit.yml @@ -54,7 +54,7 @@ jobs: file_path=Automated/*.hl7 if [ ${{ github.event.inputs.name }} = "Golden Copy Staging Test" ]; then - file_path=Automated/Golden/*.hl7 + file_path=Automated/GoldenCopy/Input/*.hl7 fi for file in $(pwd)/examples/Test/$(file_path); do From 3de118726ddb9f21a925c04254a0fbc0713262de Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Wed, 18 Dec 2024 17:04:09 -0700 Subject: [PATCH 13/61] modify example files to be aligned with readme reqs --- .../GoldenCopy/Input/001_ORU_R01_golden_copy_input_acylc_1.hl7 | 2 +- .../GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 | 2 +- .../Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 | 2 +- .../GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 | 2 +- .../Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 | 2 +- 5 files changed, 5 insertions(+), 5 deletions(-) diff --git a/examples/Test/Automated/GoldenCopy/Input/001_ORU_R01_golden_copy_input_acylc_1.hl7 b/examples/Test/Automated/GoldenCopy/Input/001_ORU_R01_golden_copy_input_acylc_1.hl7 index 833ef6d16..f43843e0a 100644 --- a/examples/Test/Automated/GoldenCopy/Input/001_ORU_R01_golden_copy_input_acylc_1.hl7 +++ b/examples/Test/Automated/GoldenCopy/Input/001_ORU_R01_golden_copy_input_acylc_1.hl7 @@ -1,4 +1,4 @@ -MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9413816^L,M,N|^1477542173^L,M,N|20241015050654||ORU^R01^ORU_R01|001|P|2.5.1\r +MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9413816^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241015050654||ORU^R01^ORU_R01|001|N|2.5.1\r PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** NK1|1|*****PII REMOVED****** ORC|RE|673678765^FormNumber||M17965^HospOrdNumber||||||||1477542173^BROOKS^STEWART^^^^^^^NPI|||||||||CEDARS-SINAI MEDICAL CENTER^^^^^^^^^R150|8700 BEVERLY BLVD^^W HOLLYWOOD^CA^90048-1804\r diff --git a/examples/Test/Automated/GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 b/examples/Test/Automated/GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 index 2594c49b0..680a34bad 100644 --- a/examples/Test/Automated/GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 +++ b/examples/Test/Automated/GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 @@ -1,4 +1,4 @@ -MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9413816^L,M,N|^1194257170^L,M,N|20241018050234||ORU^R01^ORU_R01|002|P|2.5.1\r +MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9413816^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241018050234||ORU^R01^ORU_R01|002|N|2.5.1\r PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** NK1|1|*****PII REMOVED****** ORC|RE|12345667867^FormNumber||S30500^HospOrdNumber||||||||1194257170^MAHMOOD^SARAH^^^^^^^NPI|||||||||CEDARS-SINAI MEDICAL CENTER^^^^^^^^^R150|8700 BEVERLY BLVD^^W HOLLYWOOD^CA^90048-1804\r diff --git a/examples/Test/Automated/GoldenCopy/Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 b/examples/Test/Automated/GoldenCopy/Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 index 01ec6acd7..a1ed92d13 100644 --- a/examples/Test/Automated/GoldenCopy/Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 +++ b/examples/Test/Automated/GoldenCopy/Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 @@ -1,4 +1,4 @@ -MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9414049^L,M,N|^1043390461^L,M,N|20241023050044||ORU^R01^ORU_R01|003|P|2.5.1\r +MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9414049^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241023050044||ORU^R01^ORU_R01|003|N|2.5.1\r PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** NK1|1|*****PII REMOVED****** ORC|RE|45789876^FormNumber||56352742^HospOrdNumber||||||||1043390461^PROFIT^DR JOCHEN^^^^^^^NPI|||||||||STANFORD/LUCILE PACKARD CHILDREN'S HOSPI^^^^^^^^^R777|725 WELCH RD, RM H1524^^PALO ALTO^CA^94304-1601\r diff --git a/examples/Test/Automated/GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 b/examples/Test/Automated/GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 index 47e9e7c81..8e0752090 100644 --- a/examples/Test/Automated/GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 +++ b/examples/Test/Automated/GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 @@ -1,4 +1,4 @@ -MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^1447323951^L,M,N|20241030050154||ORU^R01^ORU_R01|004|P|2.5.1\r +MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241030050154||ORU^R01^ORU_R01|004|N|2.5.1\r PID|1||335441864^^^104638912487&NPI^MR||*****PII REMOVED****** NK1|1|*****PII REMOVED****** ORC|RE|356672001^FormNumber||629813494^HospOrdNumber||||||||1093050858^SILVA^RICHARD^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|200 W ARBOR DR^^SAN DIEGO^CA^92103-1911\r diff --git a/examples/Test/Automated/GoldenCopy/Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 b/examples/Test/Automated/GoldenCopy/Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 index 70305c7dc..0d67e12e9 100644 --- a/examples/Test/Automated/GoldenCopy/Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 +++ b/examples/Test/Automated/GoldenCopy/Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 @@ -1,4 +1,4 @@ -MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9414049^L,M,N|^^L,M,N|20241018050017||ORU^R01^ORU_R01|005|P|2.5.1\r +MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9414049^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241018050017||ORU^R01^ORU_R01|005|N|2.5.1\r PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** NK1|1|*****PII REMOVED****** ORC|RE|753234567^FormNumber||56155532^HospOrdNumber||||||||^SCALA^MELISSA|||||||||STANFORD/LUCILE PACKARD CHILDREN'S HOSPI^^^^^^^^^R777|725 WELCH RD, RM H1524^^PALO ALTO^CA^94304-1601\r From ebe7a4632eaf7a909491b7845868bdb0aa0c972b Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Wed, 18 Dec 2024 17:09:13 -0700 Subject: [PATCH 14/61] move directory up one and fix file paths --- .../workflows/automated-staging-test-run.yml | 2 +- .../automated-staging-test-submit.yml | 2 +- .../001_ORU_R01_golden_copy_input_acylc_1.hl7 | 0 .../002_ORU_R01_golden_copy_input_acylc_2.hl7 | 0 ...03_ORU_R01_golden_copy_input_aa_unusual.hl7 | 0 .../004_ORU_R01_golden_copy_input_in_range.hl7 | 0 ..._ORU_R01_golden_copy_input_out_of_range.hl7 | 0 examples/Test/GoldenCopy/README.md | 18 ++++++++++++++++++ .../rse2e/GoldenCopyTest.groovy | 1 - 9 files changed, 20 insertions(+), 3 deletions(-) rename examples/Test/{Automated => }/GoldenCopy/Input/001_ORU_R01_golden_copy_input_acylc_1.hl7 (100%) rename examples/Test/{Automated => }/GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 (100%) rename examples/Test/{Automated => }/GoldenCopy/Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 (100%) rename examples/Test/{Automated => }/GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 (100%) rename examples/Test/{Automated => }/GoldenCopy/Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 (100%) create mode 100644 examples/Test/GoldenCopy/README.md diff --git a/.github/workflows/automated-staging-test-run.yml b/.github/workflows/automated-staging-test-run.yml index 78d636679..0927d5cc5 100644 --- a/.github/workflows/automated-staging-test-run.yml +++ b/.github/workflows/automated-staging-test-run.yml @@ -30,7 +30,7 @@ jobs: else test_type=goldenCopyTest title=Golden Copy - file_path=../examples/Test/Automated/GoldenCopy/Expected/ + file_path=../examples/Test/GoldenCopy/Expected/ fi echo "test_type=test_type" >> $GITHUB_OUTPUT echo "title=$title" >> $GITHUB_OUTPUT diff --git a/.github/workflows/automated-staging-test-submit.yml b/.github/workflows/automated-staging-test-submit.yml index 60f2a39cb..157b3746b 100644 --- a/.github/workflows/automated-staging-test-submit.yml +++ b/.github/workflows/automated-staging-test-submit.yml @@ -54,7 +54,7 @@ jobs: file_path=Automated/*.hl7 if [ ${{ github.event.inputs.name }} = "Golden Copy Staging Test" ]; then - file_path=Automated/GoldenCopy/Input/*.hl7 + file_path=GoldenCopy/Input/*.hl7 fi for file in $(pwd)/examples/Test/$(file_path); do diff --git a/examples/Test/Automated/GoldenCopy/Input/001_ORU_R01_golden_copy_input_acylc_1.hl7 b/examples/Test/GoldenCopy/Input/001_ORU_R01_golden_copy_input_acylc_1.hl7 similarity index 100% rename from examples/Test/Automated/GoldenCopy/Input/001_ORU_R01_golden_copy_input_acylc_1.hl7 rename to examples/Test/GoldenCopy/Input/001_ORU_R01_golden_copy_input_acylc_1.hl7 diff --git a/examples/Test/Automated/GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 b/examples/Test/GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 similarity index 100% rename from examples/Test/Automated/GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 rename to examples/Test/GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 diff --git a/examples/Test/Automated/GoldenCopy/Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 b/examples/Test/GoldenCopy/Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 similarity index 100% rename from examples/Test/Automated/GoldenCopy/Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 rename to examples/Test/GoldenCopy/Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 diff --git a/examples/Test/Automated/GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 b/examples/Test/GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 similarity index 100% rename from examples/Test/Automated/GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 rename to examples/Test/GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 diff --git a/examples/Test/Automated/GoldenCopy/Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 b/examples/Test/GoldenCopy/Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 similarity index 100% rename from examples/Test/Automated/GoldenCopy/Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 rename to examples/Test/GoldenCopy/Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 diff --git a/examples/Test/GoldenCopy/README.md b/examples/Test/GoldenCopy/README.md new file mode 100644 index 000000000..df9af42a4 --- /dev/null +++ b/examples/Test/GoldenCopy/README.md @@ -0,0 +1,18 @@ +This folder contains the HL7 sample files that are used in the Golden Copy ReportStream +integration tests. The [automated-staging-test-submit.yml](/.github/workflows/automated-staging-test-submit.yml) +Github workflow that runs daily will grab these files and send them to ReportStream in staging. +The files are expected to go through the whole flow and to be delivered to an Azure blob +container that will later be used by the +[automated-staging-test-run.yml](/.github/workflows/automated-staging-test-run.yml) workflow to run tests on them by comparing the golden copy to the actual output. + +## Requirements for the HL7 files + +The files are required to: + +- Be a valid HL7 file +- Be a supported HL7 message type: `ORM`, `OML` or `ORU` +- Have `automated-staging-test-receiver-id` in `MSH-6.2` in order to be routed correctly + - If it's a sample file for UCSD, which has transformation that will overwrite `MSH-6.2`, the HL7 is required to have the prefix `AUTOMATEDTEST-` in `MSH-10` as a workaround - there is special routing in ReportStream to handle this +- Each file must have a unique value in `MSH-10`. We use this value to match the input and output files, so if it's not unique, we won't be able to match the files correctly + - We format `MSH-10` based on the file index, like `001` (or `AUTOMATEDTEST-001` for UCSD) +- `MSH-11` needs to have a value of `N` diff --git a/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenCopyTest.groovy b/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenCopyTest.groovy index 9b9b2dea3..86d6b3bc9 100644 --- a/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenCopyTest.groovy +++ b/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenCopyTest.groovy @@ -54,7 +54,6 @@ class GoldenCopyTest extends Specification { } def "Compare files"() { - // Update Automated Test README // Currently reusing automated staging test workflows but we might need to pivot for cron schedule // Get golden copy and input From 9605cc1b424458da9781fc0bf96248842d6841a7 Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Wed, 18 Dec 2024 17:13:15 -0700 Subject: [PATCH 15/61] move golden copy to automated to get files after transformed --- .../001_ORU_R01_golden_copy_input_acylc_1.hl7 | 143 ++++++++++++++++++ .../002_ORU_R01_golden_copy_input_acylc_2.hl7 | 142 +++++++++++++++++ ...3_ORU_R01_golden_copy_input_aa_unusual.hl7 | 142 +++++++++++++++++ ...004_ORU_R01_golden_copy_input_in_range.hl7 | 142 +++++++++++++++++ ...ORU_R01_golden_copy_input_out_of_range.hl7 | 142 +++++++++++++++++ ...taging_ORM_O01_short_linked_to_002_ORU.hl7 | 0 ...taging_ORU_O01_short_linked_to_001_ORM.hl7 | 0 .../003_CA_ORU_R01_CDPH_produced.hl7 | 0 .../004_CA_ORU_R01_leading_zeroes.hl7 | 0 .../005_CA_ORU_R01_no_leading_zeroes.hl7 | 0 .../006_CA_ORU_R01_LOINC.hl7 | 0 .../007_CA_ORU_R01_PLT.hl7 | 0 .../008_ORU_R01_micro_character_encoding.hl7 | 0 .../009_CA_ORU_R01_remove_99717-5_OBX.hl7 | 0 ...01_NBS_0_initial_obr_flatten_example_1.hl7 | 0 15 files changed, 711 insertions(+) create mode 100644 examples/Test/Automated/001_ORU_R01_golden_copy_input_acylc_1.hl7 create mode 100644 examples/Test/Automated/002_ORU_R01_golden_copy_input_acylc_2.hl7 create mode 100644 examples/Test/Automated/003_ORU_R01_golden_copy_input_aa_unusual.hl7 create mode 100644 examples/Test/Automated/004_ORU_R01_golden_copy_input_in_range.hl7 create mode 100644 examples/Test/Automated/005_ORU_R01_golden_copy_input_out_of_range.hl7 rename examples/Test/{Automated => tempStorage}/001_Staging_ORM_O01_short_linked_to_002_ORU.hl7 (100%) rename examples/Test/{Automated => tempStorage}/002_Staging_ORU_O01_short_linked_to_001_ORM.hl7 (100%) rename examples/Test/{Automated => tempStorage}/003_CA_ORU_R01_CDPH_produced.hl7 (100%) rename examples/Test/{Automated => tempStorage}/004_CA_ORU_R01_leading_zeroes.hl7 (100%) rename examples/Test/{Automated => tempStorage}/005_CA_ORU_R01_no_leading_zeroes.hl7 (100%) rename examples/Test/{Automated => tempStorage}/006_CA_ORU_R01_LOINC.hl7 (100%) rename examples/Test/{Automated => tempStorage}/007_CA_ORU_R01_PLT.hl7 (100%) rename examples/Test/{Automated => tempStorage}/008_ORU_R01_micro_character_encoding.hl7 (100%) rename examples/Test/{Automated => tempStorage}/009_CA_ORU_R01_remove_99717-5_OBX.hl7 (100%) rename examples/Test/{Automated => tempStorage}/010_LA_ORU_R01_NBS_0_initial_obr_flatten_example_1.hl7 (100%) diff --git a/examples/Test/Automated/001_ORU_R01_golden_copy_input_acylc_1.hl7 b/examples/Test/Automated/001_ORU_R01_golden_copy_input_acylc_1.hl7 new file mode 100644 index 000000000..f43843e0a --- /dev/null +++ b/examples/Test/Automated/001_ORU_R01_golden_copy_input_acylc_1.hl7 @@ -0,0 +1,143 @@ +MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9413816^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241015050654||ORU^R01^ORU_R01|001|N|2.5.1\r +PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** +NK1|1|*****PII REMOVED****** +ORC|RE|673678765^FormNumber||M17965^HospOrdNumber||||||||1477542173^BROOKS^STEWART^^^^^^^NPI|||||||||CEDARS-SINAI MEDICAL CENTER^^^^^^^^^R150|8700 BEVERLY BLVD^^W HOLLYWOOD^CA^90048-1804\r +OBR|1|673678765^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410011420|||||||||||||||20241015050654|||F\r +OBR|2|673678765^FormNumber||57128-1^Newborn Screening Report summary panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241015050654\r +OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241015050654\r +OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241015050654\r +OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241015050654\r +OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241015050654\r +OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - LONG BEACH MEMORIAL MEDICAL CENTER \\R\\3747 LONG BEACH BLVD, LONG BEACH, CA 90807-3309\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Acyl Carnitine Panel: An immediate referral to a CCS Metabolic Center is strongly recommended. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at UCLA Medical Center at (310) 826-4458. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241015050654\r +OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241015050654\r +OBR|3|673678765^FormNumber||57717-1^Newborn screen card data panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241015050654\r +OBX|2|NM|8339-4^Birthweight^LN|1|4020|grams||N|||F|||20241015050654\r +OBX|3|TM|57715-5^Time of birth^LN|1|1416|||N|||F|||20241015050654\r +OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241015050654\r +OBX|5|NM|73806-2^Newborn age in hours^LN|1|24|hour(s)||N|||F|||20241015050654\r +OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241015050654\r +OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241015050654\r +OBX|8|CE|67704-7^Feeding types^LN|2|LA16915-3^Lactose formula^LN|||N|||F|||20241015050654\r +OBX|9|TX|^^^99717-5^Accession Number^L|1|277-86-190/21-2024-32|||N|||F|||20241015050654\r +OBX|10|TX|62324-9^Post-discharge provider name^LN|1|STEWART BROOKS|||N|||F|||20241015050654\r +OBX|11|TX|62325-6^Post-discharge provider practice ID^LN|1|1477542173|||N|||F|||20241015050654\r +OBX|12|TX|62327-2^Post-discharge provider practice address^LN|1|8700 BEVERLY BLVD W HOLLYWOOD CA 90048-1804 USA|||N|||F|||20241015050654\r +OBR|4|673678765^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410011420|||||||||||||||20241015050654|||F\r +OBR|5|673678765^FormNumber||53261-4^Amino acid newborn screen panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|387|µmol/L||N|||F|||20241015050654\r +OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|381|µmol/L|<1000|N|||F|||20241015050654\r +OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|92.6|µmol/L||N|||F|||20241015050654\r +OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.88595|{Ratio}|<4.3|N|||F|||20241015050654\r +OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|86.8|µmol/L|<230|N|||F|||20241015050654\r +OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.23|{Ratio}|<1.35|N|||F|||20241015050654\r +OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|49.1|µmol/L|<175|N|||F|||20241015050654\r +OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.09|{Ratio}|<2.6|N|||F|||20241015050654\r +OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|45.1|µmol/L|<680|N|||F|||20241015050654\r +OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.24|µmol/L|<6.1|N|||F|||20241015050654\r +OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|16.8|µmol/L|6.3-100|N|||F|||20241015050654\r +OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|20|µmol/L|5-49|N|||F|||20241015050654\r +OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3.22|{Ratio}|<4.8|N|||F|||20241015050654\r +OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|74|µmol/L|<800|N|||F|||20241015050654\r +OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|3.76|{Ratio}||N|||F|||20241015050654\r +OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|6|µmol/L|<63|N|||F|||20241015050654\r +OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.08|{Ratio}|<1.9|N|||F|||20241015050654\r 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(C18)^LN|1|1.07|µmol/L|<3.5|N|||F|||20241015050654\r +OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.65|µmol/L|<7|N|||F|||20241015050654\r +OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.23|µmol/L||N|||F|||20241015050654\r +OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.022|µmol/L|<0.1|N|||F|||20241015050654\r +OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.053|µmol/L|<0.1|N|||F|||20241015050654\r +OBR|8|673678765^FormNumber||57085-3^Organic acid newborn screen panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|2.3|µmol/L|<7.9|N|||F|||20241015050654\r +OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.07|{Ratio}|<0.42|N|||F|||20241015050654\r +OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.298|µmol/L|<0.48|N|||F|||20241015050654\r +OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|1.73|µmol/L|<1.7|H|||F|||20241015050654\r +OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.139|µmol/L|<0.95|N|||F|||20241015050654\r +OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.06043|{Ratio}|<0.38|N|||F|||20241015050654\r +OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.011|µmol/L|<0.5|N|||F|||20241015050654\r +OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.306|µmol/L|<1.15|N|||F|||20241015050654\r +OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.238|µmol/L|<0.38|N|||F|||20241015050654\r +OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.79866|{Ratio}|>0.1|N|||F|||20241015050654\r +OBR|9|673678765^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|18.10|ng/mL|<69|N|||F|||20241015050654\r +OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r +OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015050654\r +OBR|10|673678765^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00010.8|nmol/L|<85|N|||F|||20241015050654\r +OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r +OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654\r +OBR|11|673678765^FormNumber||54090-6^Thyroid newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|NM|29575-8^Thyrotropin^LN|1|4.00|mIU/L|<29|N|||F|||20241015050654\r +OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r +OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654\r +OBR|12|673678765^FormNumber||54079-9^Galactosemia newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|267.94|enzyme units|>50|N|||F|||20241015050654\r +OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r +OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654\r +OBR|13|673678765^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241015050654\r +OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241015050654\r +OBR|14|673678765^FormNumber||57087-9^Biotinidase newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|44.16|ERU|>10|N|||F|||20241015050654\r +OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r +OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654\r +OBR|15|673678765^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|84|copies/µL|>18|N|||F|||20241015050654\r +OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r +OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654\r +OBR|16|673678765^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|6.97|µmol/L/h|>=1.51|N|||F|||20241015050654\r +OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r +OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241015050654\r +OBR|17|673678765^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|10.38|µmol/L/h|>=0.77|N|||F|||20241015050654\r +OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r +OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654\r +OBR|18|673678765^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241015050654\r +OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r +OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241015050654\r +OBR|19|673678765^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|27.61|µmol/L/h|>=2.75|N|||F|||20241015050654\r +OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r +OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654\r +OBR|20|673678765^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r +OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241015050654\r +OBR|21|673678765^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.04|µmol/L|<=3|N|||F|||20241015050654\r +OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|391.37|µmol/L||N|||F|||20241015050654\r +OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|2.66||<=6|N|||F|||20241015050654\r +OBR|22|673678765^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r +OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241015050654\r +OBR|23|673678765^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410011420|||||||||||||||20241015050654|||F\r +OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.246|µmol/L|<0.47|N|||F|||20241015050654\r diff --git a/examples/Test/Automated/002_ORU_R01_golden_copy_input_acylc_2.hl7 b/examples/Test/Automated/002_ORU_R01_golden_copy_input_acylc_2.hl7 new file mode 100644 index 000000000..680a34bad --- /dev/null +++ b/examples/Test/Automated/002_ORU_R01_golden_copy_input_acylc_2.hl7 @@ -0,0 +1,142 @@ +MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9413816^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241018050234||ORU^R01^ORU_R01|002|N|2.5.1\r +PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** +NK1|1|*****PII REMOVED****** +ORC|RE|12345667867^FormNumber||S30500^HospOrdNumber||||||||1194257170^MAHMOOD^SARAH^^^^^^^NPI|||||||||CEDARS-SINAI MEDICAL CENTER^^^^^^^^^R150|8700 BEVERLY BLVD^^W HOLLYWOOD^CA^90048-1804\r +OBR|1|12345667867^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410061300|||||||||||||||20241018050234|||F\r +OBR|2|12345667867^FormNumber||57128-1^Newborn Screening Report summary panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241018050234\r +OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241018050234\r +OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241018050234\r +OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241018050234\r +OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241018050234\r +OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - LONG BEACH MEMORIAL MEDICAL CENTER \\R\\3747 LONG BEACH BLVD, LONG BEACH, CA 90807-3309\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Acyl Carnitine Panel: An immediate referral to a CCS Metabolic Center is strongly recommended. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at UCLA Medical Center at (310) 826-4458. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241018050234\r +OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241018050234\r +OBR|3|12345667867^FormNumber||57717-1^Newborn screen card data panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241018050234\r +OBX|2|NM|8339-4^Birthweight^LN|1|3135|grams||N|||F|||20241018050234\r +OBX|3|TM|57715-5^Time of birth^LN|1|1235|||N|||F|||20241018050234\r +OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241018050234\r +OBX|5|NM|73806-2^Newborn age in hours^LN|1|24|hour(s)||N|||F|||20241018050234\r +OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241018050234\r +OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241018050234\r +OBX|8|TX|^^^99717-5^Accession Number^L|1|282-18-014/21-2024-32|||N|||F|||20241018050234\r +OBX|9|TX|62324-9^Post-discharge provider name^LN|1|SARAH MAHMOOD|||N|||F|||20241018050234\r +OBX|10|TX|62325-6^Post-discharge provider practice ID^LN|1|1194257170|||N|||F|||20241018050234\r +OBX|11|TX|62327-2^Post-discharge provider practice address^LN|1|8700 BEVERLY BLVD W HOLLYWOOD CA 90048-1804 USA|||N|||F|||20241018050234\r +OBR|4|12345667867^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410061300|||||||||||||||20241018050234|||F\r +OBR|5|12345667867^FormNumber||53261-4^Amino acid newborn screen panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|611|µmol/L||N|||F|||20241018050234\r +OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|585|µmol/L|<1000|N|||F|||20241018050234\r +OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|90.9|µmol/L||N|||F|||20241018050234\r +OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.74808|{Ratio}|<4.3|N|||F|||20241018050234\r +OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|86.9|µmol/L|<230|N|||F|||20241018050234\r +OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.15|{Ratio}|<1.35|N|||F|||20241018050234\r +OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|52.0|µmol/L|<175|N|||F|||20241018050234\r +OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241018050234\r +OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|69.0|µmol/L|<680|N|||F|||20241018050234\r +OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.23|µmol/L|<6.1|N|||F|||20241018050234\r +OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|22.5|µmol/L|6.3-100|N|||F|||20241018050234\r +OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|14|µmol/L|5-49|N|||F|||20241018050234\r +OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|2.28|{Ratio}|<4.8|N|||F|||20241018050234\r +OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|68|µmol/L|<800|N|||F|||20241018050234\r +OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|4.93|{Ratio}||N|||F|||20241018050234\r +OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|6|µmol/L|<63|N|||F|||20241018050234\r +OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.09|{Ratio}|<1.9|N|||F|||20241018050234\r +OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|192|µmol/L|<1500|N|||F|||20241018050234\r +OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050234\r +OBR|6|12345667867^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA11884-6^Indeterminate^LN|||A|||F|||20241018050234\r +OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|This pattern of elevations is consistent with SCADD, IBCDD|||A|||F|||20241018050234\r +OBR|7|12345667867^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|26.6|µmol/L|6.4-125|N|||F|||20241018050234\r +OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|3.27|{Ratio}|<70|N|||F|||20241018050234\r +OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|29.2|µmol/L|10-80|N|||F|||20241018050234\r +OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|2.13913|{Ratio}|<7.6|N|||F|||20241018050234\r +OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.088|µmol/L|<0.95|N|||F|||20241018050234\r +OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.084|µmol/L|<0.45|N|||F|||20241018050234\r +OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.73|{Ratio}||N|||F|||20241018050234\r +OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.172|µmol/L|<0.65|N|||F|||20241018050234\r +OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.115|µmol/L|<0.65|N|||F|||20241018050234\r +OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.050|µmol/L|<0.45|N|||F|||20241018050234\r +OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.127|µmol/L|<2|N|||F|||20241018050234\r +OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.12|µmol/L||N|||F|||20241018050234\r +OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.333|µmol/L|<1.2|N|||F|||20241018050234\r +OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.132|µmol/L|<0.9|N|||F|||20241018050234\r +OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.13|{Ratio}||N|||F|||20241018050234\r +OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.02|µmol/L||N|||F|||20241018050234\r +OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.026|µmol/L|<0.2|N|||F|||20241018050234\r +OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|6.19|µmol/L|<12|N|||F|||20241018050234\r +OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.445|µmol/L|<1.4|N|||F|||20241018050234\r +OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.045|µmol/L|<0.1|N|||F|||20241018050234\r +OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00727|{Ratio}|<0.07|N|||F|||20241018050234\r +OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|1.53|µmol/L|<3.5|N|||F|||20241018050234\r +OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.96|µmol/L|<7|N|||F|||20241018050234\r +OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.21|µmol/L||N|||F|||20241018050234\r +OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.017|µmol/L|<0.1|N|||F|||20241018050234\r +OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.036|µmol/L|<0.1|N|||F|||20241018050234\r +OBR|8|12345667867^FormNumber||57085-3^Organic acid newborn screen panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|2.5|µmol/L|<7.9|N|||F|||20241018050234\r +OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.09|{Ratio}|<0.42|N|||F|||20241018050234\r +OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.246|µmol/L|<0.48|N|||F|||20241018050234\r +OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|1.72|µmol/L|<1.7|H|||F|||20241018050234\r +OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.115|µmol/L|<0.95|N|||F|||20241018050234\r +OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.04600|{Ratio}|<0.38|N|||F|||20241018050234\r +OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.008|µmol/L|<0.5|N|||F|||20241018050234\r +OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.232|µmol/L|<1.15|N|||F|||20241018050234\r +OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.180|µmol/L|<0.38|N|||F|||20241018050234\r +OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.73171|{Ratio}|>0.1|N|||F|||20241018050234\r +OBR|9|12345667867^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|21.20|ng/mL|<69|N|||F|||20241018050234\r +OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r +OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050234\r +OBR|10|12345667867^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00015.6|nmol/L|<85|N|||F|||20241018050234\r +OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r +OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234\r +OBR|11|12345667867^FormNumber||54090-6^Thyroid newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|NM|29575-8^Thyrotropin^LN|1|9.50|mIU/L|<29|N|||F|||20241018050234\r +OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r +OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234\r +OBR|12|12345667867^FormNumber||54079-9^Galactosemia newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|262.95|enzyme units|>50|N|||F|||20241018050234\r +OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r +OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234\r +OBR|13|12345667867^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241018050234\r +OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241018050234\r +OBR|14|12345667867^FormNumber||57087-9^Biotinidase newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|49.77|ERU|>10|N|||F|||20241018050234\r +OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r +OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234\r +OBR|15|12345667867^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|197|copies/µL|>18|N|||F|||20241018050234\r +OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r +OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234\r +OBR|16|12345667867^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.29|µmol/L/h|>=1.47|N|||F|||20241018050234\r +OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r +OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241018050234\r +OBR|17|12345667867^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|13.01|µmol/L/h|>=0.82|N|||F|||20241018050234\r +OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r +OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234\r +OBR|18|12345667867^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241018050234\r +OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r +OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241018050234\r +OBR|19|12345667867^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|27.84|µmol/L/h|>=2.79|N|||F|||20241018050234\r +OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r +OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234\r +OBR|20|12345667867^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r +OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241018050234\r +OBR|21|12345667867^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|0.97|µmol/L|<=3|N|||F|||20241018050234\r +OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|496.63|µmol/L||N|||F|||20241018050234\r +OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|1.95||<=6|N|||F|||20241018050234\r +OBR|22|12345667867^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r +OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241018050234\r +OBR|23|12345667867^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410061300|||||||||||||||20241018050234|||F\r +OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.349|µmol/L|<0.47|N|||F|||20241018050234\r diff --git a/examples/Test/Automated/003_ORU_R01_golden_copy_input_aa_unusual.hl7 b/examples/Test/Automated/003_ORU_R01_golden_copy_input_aa_unusual.hl7 new file mode 100644 index 000000000..a1ed92d13 --- /dev/null +++ b/examples/Test/Automated/003_ORU_R01_golden_copy_input_aa_unusual.hl7 @@ -0,0 +1,142 @@ +MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9414049^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241023050044||ORU^R01^ORU_R01|003|N|2.5.1\r +PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** +NK1|1|*****PII REMOVED****** +ORC|RE|45789876^FormNumber||56352742^HospOrdNumber||||||||1043390461^PROFIT^DR JOCHEN^^^^^^^NPI|||||||||STANFORD/LUCILE PACKARD CHILDREN'S HOSPI^^^^^^^^^R777|725 WELCH RD, RM H1524^^PALO ALTO^CA^94304-1601\r +OBR|1|45789876^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBR|2|45789876^FormNumber||57128-1^Newborn Screening Report summary panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241023050044\r +OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241023050044\r +OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241023050044\r +OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241023050044\r +OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241023050044\r +OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - ALLIED LABORATORY \\R\\453 RAVENDALE DR, STE B, MOUNTAIN VIEW, CA 94043-5221\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Amino Acid Panel: An immediate referral to a CCS Metabolic Center is strongly recommended. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Stanford University Medical Center at (650) 724-8120. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241023050044\r +OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241023050044\r +OBR|3|45789876^FormNumber||57717-1^Newborn screen card data panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241023050044\r +OBX|2|NM|8339-4^Birthweight^LN|1|2230|grams||N|||F|||20241023050044\r +OBX|3|TM|57715-5^Time of birth^LN|1|1358|||N|||F|||20241023050044\r +OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12412-5^Twins^LN|||N|||F|||20241023050044\r +OBX|5|NM|73806-2^Newborn age in hours^LN|1|26|hour(s)||N|||F|||20241023050044\r +OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241023050044\r +OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241023050044\r +OBX|8|TX|^^^99717-5^Accession Number^L|1|282-38-261/21-2024-12|||N|||F|||20241023050044\r +OBX|9|TX|62324-9^Post-discharge provider name^LN|1|DR JOCHEN PROFIT|||N|||F|||20241023050044\r +OBX|10|TX|62325-6^Post-discharge provider practice ID^LN|1|1043390461|||N|||F|||20241023050044\r +OBX|11|TX|62327-2^Post-discharge provider practice address^LN|1|725 WELCH RD, RM H1524 PALO ALTO CA 94304-1601 USA|||N|||F|||20241023050044\r +OBR|4|45789876^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBR|5|45789876^FormNumber||53261-4^Amino acid newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|368|µmol/L||N|||F|||20241023050044\r +OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|310|µmol/L|<1000|N|||F|||20241023050044\r +OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|34.6|µmol/L||N|||F|||20241023050044\r +OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.06462|{Ratio}|<4.3|N|||F|||20241023050044\r +OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|50.7|µmol/L|<230|N|||F|||20241023050044\r +OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.16|{Ratio}|<1.35|N|||F|||20241023050044\r +OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|32.5|µmol/L|<175|N|||F|||20241023050044\r +OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.13|{Ratio}|<2.6|N|||F|||20241023050044\r +OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|28.9|µmol/L|<680|N|||F|||20241023050044\r +OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.25|µmol/L|<6.1|N|||F|||20241023050044\r +OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|8.6|µmol/L|6.3-100|N|||F|||20241023050044\r +OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|5|µmol/L|5-49|N|||F|||20241023050044\r +OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|1.67|{Ratio}|<4.8|N|||F|||20241023050044\r +OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|32|µmol/L|<800|N|||F|||20241023050044\r +OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|6.41|{Ratio}||N|||F|||20241023050044\r +OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|3|µmol/L|<63|N|||F|||20241023050044\r +OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.09|{Ratio}|<1.9|N|||F|||20241023050044\r +OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|55|µmol/L|<1500|N|||F|||20241023050044\r +OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|This complex pattern of elevations require further evaluation|||A|||F|||20241023050044\r +OBR|6|45789876^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r +OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241023050044\r +OBR|7|45789876^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|34.9|µmol/L|6.4-125|N|||F|||20241023050044\r +OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|7.84|{Ratio}|<70|N|||F|||20241023050044\r +OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|28.1|µmol/L|10-80|N|||F|||20241023050044\r +OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|3.53125|{Ratio}|<7.6|N|||F|||20241023050044\r +OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.034|µmol/L|<0.95|N|||F|||20241023050044\r +OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.038|µmol/L|<0.45|N|||F|||20241023050044\r +OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|1.19|{Ratio}||N|||F|||20241023050044\r +OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.155|µmol/L|<0.65|N|||F|||20241023050044\r +OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.032|µmol/L|<0.65|N|||F|||20241023050044\r +OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.030|µmol/L|<0.45|N|||F|||20241023050044\r +OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.070|µmol/L|<2|N|||F|||20241023050044\r +OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.05|µmol/L||N|||F|||20241023050044\r +OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.270|µmol/L|<1.2|N|||F|||20241023050044\r +OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.084|µmol/L|<0.9|N|||F|||20241023050044\r +OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.75|{Ratio}||N|||F|||20241023050044\r +OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.02|µmol/L||N|||F|||20241023050044\r +OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.009|µmol/L|<0.2|N|||F|||20241023050044\r +OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|2.87|µmol/L|<12|N|||F|||20241023050044\r +OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.236|µmol/L|<1.4|N|||F|||20241023050044\r +OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.022|µmol/L|<0.1|N|||F|||20241023050044\r +OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00767|{Ratio}|<0.07|N|||F|||20241023050044\r +OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|0.987|µmol/L|<3.5|N|||F|||20241023050044\r +OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.59|µmol/L|<7|N|||F|||20241023050044\r +OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.20|µmol/L||N|||F|||20241023050044\r +OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.014|µmol/L|<0.1|N|||F|||20241023050044\r +OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.034|µmol/L|<0.1|N|||F|||20241023050044\r +OBR|8|45789876^FormNumber||57085-3^Organic acid newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|1.9|µmol/L|<7.9|N|||F|||20241023050044\r +OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.07|{Ratio}|<0.42|N|||F|||20241023050044\r +OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.113|µmol/L|<0.48|N|||F|||20241023050044\r +OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.161|µmol/L|<1.7|N|||F|||20241023050044\r +OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.111|µmol/L|<0.95|N|||F|||20241023050044\r +OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.05842|{Ratio}|<0.38|N|||F|||20241023050044\r +OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.006|µmol/L|<0.5|N|||F|||20241023050044\r +OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.140|µmol/L|<1.15|N|||F|||20241023050044\r +OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.091|µmol/L|<0.38|N|||F|||20241023050044\r +OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.80531|{Ratio}|>0.1|N|||F|||20241023050044\r +OBR|9|45789876^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|27.50|ng/mL|<69|N|||F|||20241023050044\r +OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r +OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241023050044\r +OBR|10|45789876^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00029.9|nmol/L|<190|N|||F|||20241023050044\r +OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r +OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044\r +OBR|11|45789876^FormNumber||54090-6^Thyroid newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|NM|29575-8^Thyrotropin^LN|1|6.90|mIU/L|<29|N|||F|||20241023050044\r +OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r +OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044\r +OBR|12|45789876^FormNumber||54079-9^Galactosemia newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|226.51|enzyme units|>50|N|||F|||20241023050044\r +OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r +OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044\r +OBR|13|45789876^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241023050044\r +OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241023050044\r +OBR|14|45789876^FormNumber||57087-9^Biotinidase newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|28.87|ERU|>10|N|||F|||20241023050044\r +OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r +OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044\r +OBR|15|45789876^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|198|copies/µL|>18|N|||F|||20241023050044\r +OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r +OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044\r +OBR|16|45789876^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|7.91|µmol/L/h|>=1.62|N|||F|||20241023050044\r +OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r +OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241023050044\r +OBR|17|45789876^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|7.78|µmol/L/h|>=0.79|N|||F|||20241023050044\r +OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r +OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044\r +OBR|18|45789876^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241023050044\r +OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r +OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241023050044\r +OBR|19|45789876^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.94|µmol/L/h|>=2.95|N|||F|||20241023050044\r +OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r +OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044\r +OBR|20|45789876^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r +OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241023050044\r +OBR|21|45789876^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.00|µmol/L|<=3|N|||F|||20241023050044\r +OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|707.37|µmol/L||N|||F|||20241023050044\r +OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|1.41||<=6|N|||F|||20241023050044\r +OBR|22|45789876^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r +OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241023050044\r +OBR|23|45789876^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r +OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.246|µmol/L|<0.47|N|||F|||20241023050044\r diff --git a/examples/Test/Automated/004_ORU_R01_golden_copy_input_in_range.hl7 b/examples/Test/Automated/004_ORU_R01_golden_copy_input_in_range.hl7 new file mode 100644 index 000000000..8e0752090 --- /dev/null +++ b/examples/Test/Automated/004_ORU_R01_golden_copy_input_in_range.hl7 @@ -0,0 +1,142 @@ +MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241030050154||ORU^R01^ORU_R01|004|N|2.5.1\r +PID|1||335441864^^^104638912487&NPI^MR||*****PII REMOVED****** +NK1|1|*****PII REMOVED****** +ORC|RE|356672001^FormNumber||629813494^HospOrdNumber||||||||1093050858^SILVA^RICHARD^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|200 W ARBOR DR^^SAN DIEGO^CA^92103-1911\r +OBR|1|356672001^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBR|2|356672001^FormNumber||57128-1^Newborn Screening Report summary panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241030050154\r +OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241030050154\r +OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA12428-1^All screening is in range for the conditions tested^LN|||N|||F|||20241030050154\r +OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241030050154\r +OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241030050154\r +OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \\R\\2130 E Illinois Avenue, FRESNO, CA 93701\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (858) 966-8708. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241030050154\r +OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241030050154\r +OBR|3|356672001^FormNumber||57717-1^Newborn screen card data panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241030050154\r +OBX|2|NM|8339-4^Birthweight^LN|1|3464|grams||N|||F|||20241030050154\r +OBX|3|TM|57715-5^Time of birth^LN|1|0444|||N|||F|||20241030050154\r +OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241030050154\r +OBX|5|NM|73806-2^Newborn age in hours^LN|1|19|hour(s)||N|||F|||20241030050154\r +OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241030050154\r +OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241030050154\r +OBX|8|TX|^^^99717-5^Accession Number^L|1|292-04-123/21-2024-32|||N|||F|||20241030050154\r +OBX|9|TX|62324-9^Post-discharge provider name^LN|1|DIANE BEDROSIAN|||N|||F|||20241030050154\r +OBX|10|TX|62325-6^Post-discharge provider practice ID^LN|1|1447323951|||N|||F|||20241030050154\r +OBX|11|TX|62327-2^Post-discharge provider practice address^LN|1|200 W ARBOR DR SAN DIEGO CA 92103-1911 USA|||N|||F|||20241030050154\r +OBR|4|356672001^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBR|5|356672001^FormNumber||53261-4^Amino acid newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|536|µmol/L||N|||F|||20241030050154\r +OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|559|µmol/L|<1000|N|||F|||20241030050154\r +OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|123|µmol/L||N|||F|||20241030050154\r +OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|2.14286|{Ratio}|<4.3|N|||F|||20241030050154\r +OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|113|µmol/L|<230|N|||F|||20241030050154\r +OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.20|{Ratio}|<1.35|N|||F|||20241030050154\r +OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|57.4|µmol/L|<175|N|||F|||20241030050154\r +OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.05|{Ratio}|<2.6|N|||F|||20241030050154\r +OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|54.8|µmol/L|<680|N|||F|||20241030050154\r +OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.20|µmol/L|<6.1|N|||F|||20241030050154\r +OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|22.8|µmol/L|6.3-100|N|||F|||20241030050154\r +OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|10|µmol/L|5-49|N|||F|||20241030050154\r +OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|1.52|{Ratio}|<4.8|N|||F|||20241030050154\r +OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|84|µmol/L|<800|N|||F|||20241030050154\r +OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|8.40|{Ratio}||N|||F|||20241030050154\r +OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|7|µmol/L|<63|N|||F|||20241030050154\r +OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.08|{Ratio}|<1.9|N|||F|||20241030050154\r +OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|154|µmol/L|<1500|N|||F|||20241030050154\r +OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241030050154\r +OBR|6|356672001^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r +OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241030050154\r +OBR|7|356672001^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|24.4|µmol/L|6.4-125|N|||F|||20241030050154\r +OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|4.32|{Ratio}|<70|N|||F|||20241030050154\r +OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|27.3|µmol/L|10-80|N|||F|||20241030050154\r +OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|2.73000|{Ratio}|<7.6|N|||F|||20241030050154\r +OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.067|µmol/L|<0.95|N|||F|||20241030050154\r +OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.076|µmol/L|<0.45|N|||F|||20241030050154\r +OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.76|{Ratio}||N|||F|||20241030050154\r +OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.103|µmol/L|<0.65|N|||F|||20241030050154\r +OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.100|µmol/L|<0.65|N|||F|||20241030050154\r +OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.035|µmol/L|<0.45|N|||F|||20241030050154\r +OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.132|µmol/L|<2|N|||F|||20241030050154\r +OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.17|µmol/L||N|||F|||20241030050154\r +OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.264|µmol/L|<1.2|N|||F|||20241030050154\r +OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.189|µmol/L|<0.9|N|||F|||20241030050154\r +OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.13|{Ratio}||N|||F|||20241030050154\r +OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.03|µmol/L||N|||F|||20241030050154\r +OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.021|µmol/L|<0.2|N|||F|||20241030050154\r +OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|3.88|µmol/L|<12|N|||F|||20241030050154\r +OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.371|µmol/L|<1.4|N|||F|||20241030050154\r +OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.030|µmol/L|<0.1|N|||F|||20241030050154\r +OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00773|{Ratio}|<0.07|N|||F|||20241030050154\r +OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|1.11|µmol/L|<3.5|N|||F|||20241030050154\r +OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.76|µmol/L|<7|N|||F|||20241030050154\r +OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.15|µmol/L||N|||F|||20241030050154\r +OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.015|µmol/L|<0.1|N|||F|||20241030050154\r +OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.032|µmol/L|<0.1|N|||F|||20241030050154\r +OBR|8|356672001^FormNumber||57085-3^Organic acid newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|2.3|µmol/L|<7.9|N|||F|||20241030050154\r +OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.09|{Ratio}|<0.42|N|||F|||20241030050154\r +OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.273|µmol/L|<0.48|N|||F|||20241030050154\r +OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.315|µmol/L|<1.7|N|||F|||20241030050154\r +OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.117|µmol/L|<0.95|N|||F|||20241030050154\r +OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.05087|{Ratio}|<0.38|N|||F|||20241030050154\r +OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.009|µmol/L|<0.5|N|||F|||20241030050154\r +OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.217|µmol/L|<1.15|N|||F|||20241030050154\r +OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.183|µmol/L|<0.38|N|||F|||20241030050154\r +OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.67033|{Ratio}|>0.1|N|||F|||20241030050154\r +OBR|9|356672001^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|27.20|ng/mL|<69|N|||F|||20241030050154\r +OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r +OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241030050154\r +OBR|10|356672001^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00015.2|nmol/L|<85|N|||F|||20241030050154\r +OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r +OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154\r +OBR|11|356672001^FormNumber||54090-6^Thyroid newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|NM|29575-8^Thyrotropin^LN|1|15.40|mIU/L|<29|N|||F|||20241030050154\r +OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r +OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154\r +OBR|12|356672001^FormNumber||54079-9^Galactosemia newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|273.54|enzyme units|>50|N|||F|||20241030050154\r +OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r +OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154\r +OBR|13|356672001^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241030050154\r +OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241030050154\r +OBR|14|356672001^FormNumber||57087-9^Biotinidase newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|73.00|ERU|>10|N|||F|||20241030050154\r +OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r +OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154\r +OBR|15|356672001^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|120|copies/µL|>18|N|||F|||20241030050154\r +OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r +OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154\r +OBR|16|356672001^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|11.43|µmol/L/h|>=1.54|N|||F|||20241030050154\r +OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r +OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241030050154\r +OBR|17|356672001^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|9.33|µmol/L/h|>=0.86|N|||F|||20241030050154\r +OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r +OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154\r +OBR|18|356672001^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241030050154\r +OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r +OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241030050154\r +OBR|19|356672001^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|22.31|µmol/L/h|>=2.84|N|||F|||20241030050154\r +OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r +OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154\r +OBR|20|356672001^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r +OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241030050154\r +OBR|21|356672001^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.22|µmol/L|<=3|N|||F|||20241030050154\r +OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|411.55|µmol/L||N|||F|||20241030050154\r +OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|2.95||<=6|N|||F|||20241030050154\r +OBR|22|356672001^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r +OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241030050154\r +OBR|23|356672001^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r +OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.138|µmol/L|<0.47|N|||F|||20241030050154\r diff --git a/examples/Test/Automated/005_ORU_R01_golden_copy_input_out_of_range.hl7 b/examples/Test/Automated/005_ORU_R01_golden_copy_input_out_of_range.hl7 new file mode 100644 index 000000000..0d67e12e9 --- /dev/null +++ b/examples/Test/Automated/005_ORU_R01_golden_copy_input_out_of_range.hl7 @@ -0,0 +1,142 @@ +MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9414049^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241018050017||ORU^R01^ORU_R01|005|N|2.5.1\r +PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** +NK1|1|*****PII REMOVED****** +ORC|RE|753234567^FormNumber||56155532^HospOrdNumber||||||||^SCALA^MELISSA|||||||||STANFORD/LUCILE PACKARD CHILDREN'S HOSPI^^^^^^^^^R777|725 WELCH RD, RM H1524^^PALO ALTO^CA^94304-1601\r +OBR|1|753234567^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBR|1|753234567^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBR|2|753234567^FormNumber||57128-1^Newborn Screening Report summary panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241018050017\r +OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241018050017\r +OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241018050017\r +OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA16207-5^Hemoglobinopathies^LN|||N|||F|||20241018050017\r +OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241018050017\r +OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - ALLIED LABORATORY \\R\\453 RAVENDALE DR, STE B, MOUNTAIN VIEW, CA 94043-5221\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Hb: An immediate referral to a CCS Hematology Center or a pediatric hematologist familiar with alpha thalassemia and Hb H disease is strongly recommended for this infant. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Stanford University Medical Center at (650) 724-8120. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241018050017\r +OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241018050017\r +OBR|3|753234567^FormNumber||57717-1^Newborn screen card data panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241018050017\r +OBX|2|NM|8339-4^Birthweight^LN|1|2658|grams||N|||F|||20241018050017\r +OBX|3|TM|57715-5^Time of birth^LN|1|0027|||N|||F|||20241018050017\r +OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241018050017\r +OBX|5|NM|73806-2^Newborn age in hours^LN|1|28|hour(s)||N|||F|||20241018050017\r +OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241018050017\r +OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241018050017\r +OBX|8|TX|^^^99717-5^Accession Number^L|1|272-95-009/21-2024-12|||N|||F|||20241018050017\r +OBX|9|TX|62324-9^Post-discharge provider name^LN|1|MELISSA SCALA|||N|||F|||20241018050017\r +OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|725 WELCH RD, RM H1524 PALO ALTO CA 94304-1601 USA|||N|||F|||20241018050017\r +OBR|4|753234567^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBR|5|753234567^FormNumber||53261-4^Amino acid newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|926|µmol/L||N|||F|||20241018050017\r +OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|588|µmol/L|<1000|N|||F|||20241018050017\r +OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|79.4|µmol/L||N|||F|||20241018050017\r +OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.29739|{Ratio}|<4.3|N|||F|||20241018050017\r +OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|99.2|µmol/L|<230|N|||F|||20241018050017\r +OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.17|{Ratio}|<1.35|N|||F|||20241018050017\r +OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|61.2|µmol/L|<175|N|||F|||20241018050017\r +OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.77|{Ratio}|<2.6|N|||F|||20241018050017\r +OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|34.7|µmol/L|<680|N|||F|||20241018050017\r +OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.33|µmol/L|<6.1|N|||F|||20241018050017\r +OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|20.4|µmol/L|6.3-100|N|||F|||20241018050017\r +OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|10|µmol/L|5-49|N|||F|||20241018050017\r +OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|2.79|{Ratio}|<4.8|N|||F|||20241018050017\r +OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|43|µmol/L|<800|N|||F|||20241018050017\r +OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|4.44|{Ratio}||N|||F|||20241018050017\r +OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|3|µmol/L|<63|N|||F|||20241018050017\r +OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.08|{Ratio}|<1.9|N|||F|||20241018050017\r +OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|187|µmol/L|<1500|N|||F|||20241018050017\r +OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050017\r +OBR|6|753234567^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r +OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050017\r +OBR|7|753234567^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|39.6|µmol/L|6.4-125|N|||F|||20241018050017\r +OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|5.35|{Ratio}|<70|N|||F|||20241018050017\r +OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|34.7|µmol/L|10-80|N|||F|||20241018050017\r +OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|3.27536|{Ratio}|<7.6|N|||F|||20241018050017\r +OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.100|µmol/L|<0.95|N|||F|||20241018050017\r +OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.075|µmol/L|<0.45|N|||F|||20241018050017\r +OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|1.09|{Ratio}||N|||F|||20241018050017\r +OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.163|µmol/L|<0.65|N|||F|||20241018050017\r +OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.069|µmol/L|<0.65|N|||F|||20241018050017\r +OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.057|µmol/L|<0.45|N|||F|||20241018050017\r +OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.118|µmol/L|<2|N|||F|||20241018050017\r +OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.06|µmol/L||N|||F|||20241018050017\r +OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.394|µmol/L|<1.2|N|||F|||20241018050017\r +OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.130|µmol/L|<0.9|N|||F|||20241018050017\r +OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|2.32|{Ratio}||N|||F|||20241018050017\r +OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.03|µmol/L||N|||F|||20241018050017\r +OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.026|µmol/L|<0.2|N|||F|||20241018050017\r +OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5.52|µmol/L|<12|N|||F|||20241018050017\r +OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.245|µmol/L|<1.4|N|||F|||20241018050017\r +OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.042|µmol/L|<0.1|N|||F|||20241018050017\r +OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00761|{Ratio}|<0.07|N|||F|||20241018050017\r +OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2.13|µmol/L|<3.5|N|||F|||20241018050017\r +OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.89|µmol/L|<7|N|||F|||20241018050017\r +OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.29|µmol/L||N|||F|||20241018050017\r +OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.032|µmol/L|<0.1|N|||F|||20241018050017\r +OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.047|µmol/L|<0.1|N|||F|||20241018050017\r +OBR|8|753234567^FormNumber||57085-3^Organic acid newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|4.2|µmol/L|<7.9|N|||F|||20241018050017\r +OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.12|{Ratio}|<0.42|N|||F|||20241018050017\r +OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.226|µmol/L|<0.48|N|||F|||20241018050017\r +OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.424|µmol/L|<1.7|N|||F|||20241018050017\r +OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.247|µmol/L|<0.95|N|||F|||20241018050017\r +OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.05881|{Ratio}|<0.38|N|||F|||20241018050017\r +OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.008|µmol/L|<0.5|N|||F|||20241018050017\r +OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.287|µmol/L|<1.15|N|||F|||20241018050017\r +OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.179|µmol/L|<0.38|N|||F|||20241018050017\r +OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.79204|{Ratio}|>0.1|N|||F|||20241018050017\r +OBR|9|753234567^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|18.50|ng/mL|<69|N|||F|||20241018050017\r +OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r +OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050017\r +OBR|10|753234567^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00013.8|nmol/L|<85|N|||F|||20241018050017\r +OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r +OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017\r +OBR|11|753234567^FormNumber||54090-6^Thyroid newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|NM|29575-8^Thyrotropin^LN|1|2.40|mIU/L|<29|N|||F|||20241018050017\r +OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r +OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017\r +OBR|12|753234567^FormNumber||54079-9^Galactosemia newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|293.00|enzyme units|>50|N|||F|||20241018050017\r +OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r +OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017\r +OBR|13|753234567^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA + Barts||||||F|||20241018050017\r +OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|The presence of Hb Barts at a high percentage is consistent with Hb H disease, a clinically significant hemoglobin disorder.||||||F|||20241018050017\r +OBR|14|753234567^FormNumber||57087-9^Biotinidase newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|43.76|ERU|>10|N|||F|||20241018050017\r +OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r +OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017\r +OBR|15|753234567^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|99|copies/µL|>18|N|||F|||20241018050017\r +OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r +OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017\r +OBR|16|753234567^FormNumber||63414-7^Pompe Disease newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|7.09|µmol/L/h|>=1.67|N|||F|||20241018050017\r +OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r +OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241018050017\r +OBR|17|753234567^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|8.33|µmol/L/h|>=0.86|N|||F|||20241018050017\r +OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r +OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017\r +OBR|18|753234567^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241018050017\r +OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r +OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241018050017\r +OBR|19|753234567^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|15.65|µmol/L/h|>=2.8|N|||F|||20241018050017\r +OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r +OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017\r +OBR|20|753234567^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r +OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241018050017\r +OBR|21|753234567^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.05|µmol/L|<=3|N|||F|||20241018050017\r +OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|616.49|µmol/L||N|||F|||20241018050017\r +OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|1.70||<=6|N|||F|||20241018050017\r +OBR|22|753234567^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r +OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241018050017\r +OBR|23|753234567^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r +OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.260|µmol/L|<0.47|N|||F|||20241018050017\r diff --git a/examples/Test/Automated/001_Staging_ORM_O01_short_linked_to_002_ORU.hl7 b/examples/Test/tempStorage/001_Staging_ORM_O01_short_linked_to_002_ORU.hl7 similarity index 100% rename from examples/Test/Automated/001_Staging_ORM_O01_short_linked_to_002_ORU.hl7 rename to examples/Test/tempStorage/001_Staging_ORM_O01_short_linked_to_002_ORU.hl7 diff --git a/examples/Test/Automated/002_Staging_ORU_O01_short_linked_to_001_ORM.hl7 b/examples/Test/tempStorage/002_Staging_ORU_O01_short_linked_to_001_ORM.hl7 similarity index 100% rename from examples/Test/Automated/002_Staging_ORU_O01_short_linked_to_001_ORM.hl7 rename to examples/Test/tempStorage/002_Staging_ORU_O01_short_linked_to_001_ORM.hl7 diff --git a/examples/Test/Automated/003_CA_ORU_R01_CDPH_produced.hl7 b/examples/Test/tempStorage/003_CA_ORU_R01_CDPH_produced.hl7 similarity index 100% rename from examples/Test/Automated/003_CA_ORU_R01_CDPH_produced.hl7 rename to examples/Test/tempStorage/003_CA_ORU_R01_CDPH_produced.hl7 diff --git a/examples/Test/Automated/004_CA_ORU_R01_leading_zeroes.hl7 b/examples/Test/tempStorage/004_CA_ORU_R01_leading_zeroes.hl7 similarity index 100% rename from examples/Test/Automated/004_CA_ORU_R01_leading_zeroes.hl7 rename to examples/Test/tempStorage/004_CA_ORU_R01_leading_zeroes.hl7 diff --git a/examples/Test/Automated/005_CA_ORU_R01_no_leading_zeroes.hl7 b/examples/Test/tempStorage/005_CA_ORU_R01_no_leading_zeroes.hl7 similarity index 100% rename from examples/Test/Automated/005_CA_ORU_R01_no_leading_zeroes.hl7 rename to examples/Test/tempStorage/005_CA_ORU_R01_no_leading_zeroes.hl7 diff --git a/examples/Test/Automated/006_CA_ORU_R01_LOINC.hl7 b/examples/Test/tempStorage/006_CA_ORU_R01_LOINC.hl7 similarity index 100% rename from examples/Test/Automated/006_CA_ORU_R01_LOINC.hl7 rename to examples/Test/tempStorage/006_CA_ORU_R01_LOINC.hl7 diff --git a/examples/Test/Automated/007_CA_ORU_R01_PLT.hl7 b/examples/Test/tempStorage/007_CA_ORU_R01_PLT.hl7 similarity index 100% rename from examples/Test/Automated/007_CA_ORU_R01_PLT.hl7 rename to examples/Test/tempStorage/007_CA_ORU_R01_PLT.hl7 diff --git a/examples/Test/Automated/008_ORU_R01_micro_character_encoding.hl7 b/examples/Test/tempStorage/008_ORU_R01_micro_character_encoding.hl7 similarity index 100% rename from examples/Test/Automated/008_ORU_R01_micro_character_encoding.hl7 rename to examples/Test/tempStorage/008_ORU_R01_micro_character_encoding.hl7 diff --git a/examples/Test/Automated/009_CA_ORU_R01_remove_99717-5_OBX.hl7 b/examples/Test/tempStorage/009_CA_ORU_R01_remove_99717-5_OBX.hl7 similarity index 100% rename from examples/Test/Automated/009_CA_ORU_R01_remove_99717-5_OBX.hl7 rename to examples/Test/tempStorage/009_CA_ORU_R01_remove_99717-5_OBX.hl7 diff --git a/examples/Test/Automated/010_LA_ORU_R01_NBS_0_initial_obr_flatten_example_1.hl7 b/examples/Test/tempStorage/010_LA_ORU_R01_NBS_0_initial_obr_flatten_example_1.hl7 similarity index 100% rename from examples/Test/Automated/010_LA_ORU_R01_NBS_0_initial_obr_flatten_example_1.hl7 rename to examples/Test/tempStorage/010_LA_ORU_R01_NBS_0_initial_obr_flatten_example_1.hl7 From f63c56c50dc53d041fa4316275d052d30353df87 Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Thu, 19 Dec 2024 10:33:56 -0700 Subject: [PATCH 16/61] use correct syntax Co-authored-by: saquino0827 --- .github/workflows/automated-staging-test-run.yml | 2 +- .github/workflows/automated-staging-test-submit.yml | 2 +- 2 files changed, 2 insertions(+), 2 deletions(-) diff --git a/.github/workflows/automated-staging-test-run.yml b/.github/workflows/automated-staging-test-run.yml index 0927d5cc5..962ffe43e 100644 --- a/.github/workflows/automated-staging-test-run.yml +++ b/.github/workflows/automated-staging-test-run.yml @@ -42,7 +42,7 @@ jobs: AZURE_STORAGE_CONNECTION_STRING: ${{ secrets.AUTOMATED_TEST_AZURE_STORAGE_CONNECTION_STRING }} LOCAL_FILE_PATH: ${{ steps.getFunctionList.outputs.file_path }} run: | - ./gradlew rs-e2e:clean rs-e2e:$(test_type) + ./gradlew rs-e2e:clean rs-e2e:${{ test_type }} done - name: Send slack notification on test failure diff --git a/.github/workflows/automated-staging-test-submit.yml b/.github/workflows/automated-staging-test-submit.yml index 157b3746b..9e1d7542b 100644 --- a/.github/workflows/automated-staging-test-submit.yml +++ b/.github/workflows/automated-staging-test-submit.yml @@ -57,7 +57,7 @@ jobs: file_path=GoldenCopy/Input/*.hl7 fi - for file in $(pwd)/examples/Test/$(file_path); do + for file in $(pwd)/examples/Test/${{ file_path }}; do echo "Sending $file" curl \ --header "Content-Type: application/hl7-v2" \ From de61fb518681da41b4c2411434c29f1bdc64045d Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Thu, 19 Dec 2024 10:41:28 -0700 Subject: [PATCH 17/61] make variables strings Co-authored-by: saquino0827 --- .github/workflows/automated-staging-test-run.yml | 12 ++++++------ .github/workflows/automated-staging-test-submit.yml | 4 ++-- 2 files changed, 8 insertions(+), 8 deletions(-) diff --git a/.github/workflows/automated-staging-test-run.yml b/.github/workflows/automated-staging-test-run.yml index 962ffe43e..9e12c06ce 100644 --- a/.github/workflows/automated-staging-test-run.yml +++ b/.github/workflows/automated-staging-test-run.yml @@ -24,13 +24,13 @@ jobs: - name: Determine variable type run: | if [ ${{ github.event.inputs.name }} = "Automated Staging Test" ]; then - test_type=automatedTest - title=Automated - file_path=../examples/Test/Automated/ + test_type="automatedTest" + title="Automated" + file_path="../examples/Test/Automated/" else - test_type=goldenCopyTest - title=Golden Copy - file_path=../examples/Test/GoldenCopy/Expected/ + test_type="goldenCopyTest" + title="Golden Copy" + file_path="../examples/Test/GoldenCopy/Expected/" fi echo "test_type=test_type" >> $GITHUB_OUTPUT echo "title=$title" >> $GITHUB_OUTPUT diff --git a/.github/workflows/automated-staging-test-submit.yml b/.github/workflows/automated-staging-test-submit.yml index 9e1d7542b..0743977db 100644 --- a/.github/workflows/automated-staging-test-submit.yml +++ b/.github/workflows/automated-staging-test-submit.yml @@ -52,9 +52,9 @@ jobs: --silent \ "$host/api/token" | jq -r ".access_token") - file_path=Automated/*.hl7 + file_path="Automated/*.hl7" if [ ${{ github.event.inputs.name }} = "Golden Copy Staging Test" ]; then - file_path=GoldenCopy/Input/*.hl7 + file_path="GoldenCopy/Input/*.hl7" fi for file in $(pwd)/examples/Test/${{ file_path }}; do From 96cae6c41ed012b27e5c0f74b8f7445f091385cd Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Thu, 19 Dec 2024 10:44:35 -0700 Subject: [PATCH 18/61] add dollar sign to echo Co-authored-by: saquino0827 --- .github/workflows/automated-staging-test-run.yml | 4 ++-- 1 file changed, 2 insertions(+), 2 deletions(-) diff --git a/.github/workflows/automated-staging-test-run.yml b/.github/workflows/automated-staging-test-run.yml index 9e12c06ce..24cbb4eaa 100644 --- a/.github/workflows/automated-staging-test-run.yml +++ b/.github/workflows/automated-staging-test-run.yml @@ -32,9 +32,9 @@ jobs: title="Golden Copy" file_path="../examples/Test/GoldenCopy/Expected/" fi - echo "test_type=test_type" >> $GITHUB_OUTPUT + echo "test_type=$test_type" >> $GITHUB_OUTPUT echo "title=$title" >> $GITHUB_OUTPUT - echo "file_path=file_path" >> $GITHUB_OUTPUT + echo "file_path=$file_path" >> $GITHUB_OUTPUT done - name: Run automated tests From e17f1e901b0b5588e2cb00f2c71c3b5ca76e5dfb Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Thu, 19 Dec 2024 10:56:02 -0700 Subject: [PATCH 19/61] try fixing format Co-authored-by: saquino0827 --- .../automated-staging-test-submit.yml | 56 +++++++++---------- 1 file changed, 28 insertions(+), 28 deletions(-) diff --git a/.github/workflows/automated-staging-test-submit.yml b/.github/workflows/automated-staging-test-submit.yml index 0743977db..4c64600b6 100644 --- a/.github/workflows/automated-staging-test-submit.yml +++ b/.github/workflows/automated-staging-test-submit.yml @@ -36,37 +36,37 @@ jobs: - name: Send HL7 sample messages to staging RS run: | - host=https://staging.prime.cdc.gov:443 - client_id=flexion - client_sender=simulated-sender - jwt=$(jwt encode --exp='+5min' --jti $(uuidgen) --alg RS256 \ - -k $client_id.$client_sender -i $client_id.$client_sender \ - -s $client_id.$client_sender -a $host --no-iat -S @/tmp/staging_private_key.pem) + host=https://staging.prime.cdc.gov:443 + client_id=flexion + client_sender=simulated-sender + jwt=$(jwt encode --exp='+5min' --jti $(uuidgen) --alg RS256 \ + -k $client_id.$client_sender -i $client_id.$client_sender \ + -s $client_id.$client_sender -a $host --no-iat -S @/tmp/staging_private_key.pem) - token=$(curl \ - --header "Content-Type: application/x-www-form-urlencoded" \ - --data "scope=$client_id.*.report" \ - --data "client_assertion=$jwt" \ - --data "client_assertion_type=urn:ietf:params:oauth:client-assertion-type:jwt-bearer" \ - --data "grant_type=client_credentials" \ - --silent \ - "$host/api/token" | jq -r ".access_token") + token=$(curl \ + --header "Content-Type: application/x-www-form-urlencoded" \ + --data "scope=$client_id.*.report" \ + --data "client_assertion=$jwt" \ + --data "client_assertion_type=urn:ietf:params:oauth:client-assertion-type:jwt-bearer" \ + --data "grant_type=client_credentials" \ + --silent \ + "$host/api/token" | jq -r ".access_token") - file_path="Automated/*.hl7" - if [ ${{ github.event.inputs.name }} = "Golden Copy Staging Test" ]; then - file_path="GoldenCopy/Input/*.hl7" - fi + file_path="Automated/*.hl7" + if [ ${{ github.event.inputs.name }} == "Golden Copy Staging Test" ]; then + file_path="GoldenCopy/Input/*.hl7" + fi - for file in $(pwd)/examples/Test/${{ file_path }}; do - echo "Sending $file" - curl \ - --header "Content-Type: application/hl7-v2" \ - --header "Client: $client_id.$client_sender" \ - --header "Authorization: Bearer $token" \ - --data-binary "@$file" \ - --silent \ - "$host/api/waters" - done + for file in $(pwd)/examples/Test/${{ file_path }}; do + echo "Sending $file" + curl \ + --header "Content-Type: application/hl7-v2" \ + --header "Client: $client_id.$client_sender" \ + --header "Authorization: Bearer $token" \ + --data-binary "@$file" \ + --silent \ + "$host/api/waters" + done - name: Clean up private key if: always() From 0747ee83b14ef0bbc04c02ffbd474ae37af269de Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Thu, 19 Dec 2024 11:02:25 -0700 Subject: [PATCH 20/61] change syntax Co-authored-by: saquino0827 --- .github/workflows/automated-staging-test-run.yml | 9 ++++----- .github/workflows/automated-staging-test-submit.yml | 6 +++--- 2 files changed, 7 insertions(+), 8 deletions(-) diff --git a/.github/workflows/automated-staging-test-run.yml b/.github/workflows/automated-staging-test-run.yml index 24cbb4eaa..96760ddd9 100644 --- a/.github/workflows/automated-staging-test-run.yml +++ b/.github/workflows/automated-staging-test-run.yml @@ -23,11 +23,10 @@ jobs: - name: Determine variable type run: | - if [ ${{ github.event.inputs.name }} = "Automated Staging Test" ]; then - test_type="automatedTest" - title="Automated" - file_path="../examples/Test/Automated/" - else + test_type="automatedTest" + title="Automated" + file_path="../examples/Test/Automated/" + if [ ${{ github.event.inputs.name }} = "Golden Copy Staging Test" ]; then test_type="goldenCopyTest" title="Golden Copy" file_path="../examples/Test/GoldenCopy/Expected/" diff --git a/.github/workflows/automated-staging-test-submit.yml b/.github/workflows/automated-staging-test-submit.yml index 4c64600b6..ab4b53567 100644 --- a/.github/workflows/automated-staging-test-submit.yml +++ b/.github/workflows/automated-staging-test-submit.yml @@ -52,12 +52,12 @@ jobs: --silent \ "$host/api/token" | jq -r ".access_token") - file_path="Automated/*.hl7" + file_path=Automated/*.hl7 if [ ${{ github.event.inputs.name }} == "Golden Copy Staging Test" ]; then - file_path="GoldenCopy/Input/*.hl7" + file_path=GoldenCopy/Input/*.hl7 fi - for file in $(pwd)/examples/Test/${{ file_path }}; do + for file in $(pwd)/examples/Test/$file_path; do echo "Sending $file" curl \ --header "Content-Type: application/hl7-v2" \ From bdbed53c599e862a84344aedb116184da1211d28 Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Thu, 19 Dec 2024 14:02:42 -0700 Subject: [PATCH 21/61] remove line break at end of line in example files Co-authored-by: saquino0827 Co-authored-by: Sylvie Co-authored-by: jcrichlake <145698165+jcrichlake@users.noreply.github.com> --- .../001_ORU_R01_golden_copy_input_acylc_1.hl7 | 282 +++++++++--------- .../002_ORU_R01_golden_copy_input_acylc_2.hl7 | 280 ++++++++--------- ...3_ORU_R01_golden_copy_input_aa_unusual.hl7 | 280 ++++++++--------- ...004_ORU_R01_golden_copy_input_in_range.hl7 | 280 ++++++++--------- ...ORU_R01_golden_copy_input_out_of_range.hl7 | 280 ++++++++--------- 5 files changed, 701 insertions(+), 701 deletions(-) diff --git a/examples/Test/Automated/001_ORU_R01_golden_copy_input_acylc_1.hl7 b/examples/Test/Automated/001_ORU_R01_golden_copy_input_acylc_1.hl7 index f43843e0a..a93c6ef84 100644 --- a/examples/Test/Automated/001_ORU_R01_golden_copy_input_acylc_1.hl7 +++ b/examples/Test/Automated/001_ORU_R01_golden_copy_input_acylc_1.hl7 @@ -1,143 +1,143 @@ -MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9413816^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241015050654||ORU^R01^ORU_R01|001|N|2.5.1\r +MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9413816^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241015050654||ORU^R01^ORU_R01|001|N|2.5.1 PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** NK1|1|*****PII REMOVED****** -ORC|RE|673678765^FormNumber||M17965^HospOrdNumber||||||||1477542173^BROOKS^STEWART^^^^^^^NPI|||||||||CEDARS-SINAI MEDICAL CENTER^^^^^^^^^R150|8700 BEVERLY BLVD^^W HOLLYWOOD^CA^90048-1804\r -OBR|1|673678765^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410011420|||||||||||||||20241015050654|||F\r -OBR|2|673678765^FormNumber||57128-1^Newborn Screening Report summary panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241015050654\r -OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241015050654\r -OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241015050654\r -OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241015050654\r -OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241015050654\r -OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - LONG BEACH MEMORIAL MEDICAL CENTER \\R\\3747 LONG BEACH BLVD, LONG BEACH, CA 90807-3309\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Acyl Carnitine Panel: An immediate referral to a CCS Metabolic Center is strongly recommended. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at UCLA Medical Center at (310) 826-4458. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241015050654\r -OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241015050654\r -OBR|3|673678765^FormNumber||57717-1^Newborn screen card data panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241015050654\r -OBX|2|NM|8339-4^Birthweight^LN|1|4020|grams||N|||F|||20241015050654\r -OBX|3|TM|57715-5^Time of birth^LN|1|1416|||N|||F|||20241015050654\r -OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241015050654\r -OBX|5|NM|73806-2^Newborn age in hours^LN|1|24|hour(s)||N|||F|||20241015050654\r -OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241015050654\r -OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241015050654\r -OBX|8|CE|67704-7^Feeding types^LN|2|LA16915-3^Lactose formula^LN|||N|||F|||20241015050654\r -OBX|9|TX|^^^99717-5^Accession Number^L|1|277-86-190/21-2024-32|||N|||F|||20241015050654\r -OBX|10|TX|62324-9^Post-discharge provider name^LN|1|STEWART BROOKS|||N|||F|||20241015050654\r -OBX|11|TX|62325-6^Post-discharge provider practice ID^LN|1|1477542173|||N|||F|||20241015050654\r -OBX|12|TX|62327-2^Post-discharge provider practice address^LN|1|8700 BEVERLY BLVD W HOLLYWOOD CA 90048-1804 USA|||N|||F|||20241015050654\r -OBR|4|673678765^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410011420|||||||||||||||20241015050654|||F\r -OBR|5|673678765^FormNumber||53261-4^Amino acid newborn screen panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|387|µmol/L||N|||F|||20241015050654\r -OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|381|µmol/L|<1000|N|||F|||20241015050654\r -OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|92.6|µmol/L||N|||F|||20241015050654\r -OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.88595|{Ratio}|<4.3|N|||F|||20241015050654\r -OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|86.8|µmol/L|<230|N|||F|||20241015050654\r -OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.23|{Ratio}|<1.35|N|||F|||20241015050654\r -OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|49.1|µmol/L|<175|N|||F|||20241015050654\r -OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.09|{Ratio}|<2.6|N|||F|||20241015050654\r -OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|45.1|µmol/L|<680|N|||F|||20241015050654\r -OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.24|µmol/L|<6.1|N|||F|||20241015050654\r -OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|16.8|µmol/L|6.3-100|N|||F|||20241015050654\r -OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|20|µmol/L|5-49|N|||F|||20241015050654\r -OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3.22|{Ratio}|<4.8|N|||F|||20241015050654\r -OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|74|µmol/L|<800|N|||F|||20241015050654\r -OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|3.76|{Ratio}||N|||F|||20241015050654\r -OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|6|µmol/L|<63|N|||F|||20241015050654\r -OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.08|{Ratio}|<1.9|N|||F|||20241015050654\r -OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|118|µmol/L|<1500|N|||F|||20241015050654\r -OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015050654\r -OBR|6|673678765^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA11884-6^Indeterminate^LN|||A|||F|||20241015050654\r -OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|This pattern of elevations is consistent with SCADD, IBCDD|||A|||F|||20241015050654\r -OBR|7|673678765^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|34.3|µmol/L|6.4-125|N|||F|||20241015050654\r -OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|5.93|{Ratio}|<70|N|||F|||20241015050654\r -OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|33.2|µmol/L|10-80|N|||F|||20241015050654\r -OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|1.29565|{Ratio}|<7.6|N|||F|||20241015050654\r -OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.136|µmol/L|<0.95|N|||F|||20241015050654\r -OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.150|µmol/L|<0.45|N|||F|||20241015050654\r -OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.65|{Ratio}||N|||F|||20241015050654\r -OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.221|µmol/L|<0.65|N|||F|||20241015050654\r -OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.230|µmol/L|<0.65|N|||F|||20241015050654\r -OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.088|µmol/L|<0.45|N|||F|||20241015050654\r -OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.232|µmol/L|<2|N|||F|||20241015050654\r -OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.20|µmol/L||N|||F|||20241015050654\r -OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.342|µmol/L|<1.2|N|||F|||20241015050654\r -OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.206|µmol/L|<0.9|N|||F|||20241015050654\r -OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.02|{Ratio}||N|||F|||20241015050654\r -OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.03|µmol/L||N|||F|||20241015050654\r -OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.029|µmol/L|<0.2|N|||F|||20241015050654\r -OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|4.14|µmol/L|<12|N|||F|||20241015050654\r -OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.341|µmol/L|<1.4|N|||F|||20241015050654\r -OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.049|µmol/L|<0.1|N|||F|||20241015050654\r -OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01184|{Ratio}|<0.07|N|||F|||20241015050654\r -OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|1.07|µmol/L|<3.5|N|||F|||20241015050654\r -OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.65|µmol/L|<7|N|||F|||20241015050654\r -OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.23|µmol/L||N|||F|||20241015050654\r -OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.022|µmol/L|<0.1|N|||F|||20241015050654\r -OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.053|µmol/L|<0.1|N|||F|||20241015050654\r -OBR|8|673678765^FormNumber||57085-3^Organic acid newborn screen panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|2.3|µmol/L|<7.9|N|||F|||20241015050654\r -OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.07|{Ratio}|<0.42|N|||F|||20241015050654\r -OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.298|µmol/L|<0.48|N|||F|||20241015050654\r -OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|1.73|µmol/L|<1.7|H|||F|||20241015050654\r -OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.139|µmol/L|<0.95|N|||F|||20241015050654\r -OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.06043|{Ratio}|<0.38|N|||F|||20241015050654\r -OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.011|µmol/L|<0.5|N|||F|||20241015050654\r -OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.306|µmol/L|<1.15|N|||F|||20241015050654\r -OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.238|µmol/L|<0.38|N|||F|||20241015050654\r -OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.79866|{Ratio}|>0.1|N|||F|||20241015050654\r -OBR|9|673678765^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|18.10|ng/mL|<69|N|||F|||20241015050654\r -OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r -OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015050654\r -OBR|10|673678765^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00010.8|nmol/L|<85|N|||F|||20241015050654\r -OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r -OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654\r -OBR|11|673678765^FormNumber||54090-6^Thyroid newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|NM|29575-8^Thyrotropin^LN|1|4.00|mIU/L|<29|N|||F|||20241015050654\r -OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r -OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654\r -OBR|12|673678765^FormNumber||54079-9^Galactosemia newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|267.94|enzyme units|>50|N|||F|||20241015050654\r -OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r -OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654\r -OBR|13|673678765^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241015050654\r -OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241015050654\r -OBR|14|673678765^FormNumber||57087-9^Biotinidase newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|44.16|ERU|>10|N|||F|||20241015050654\r -OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r -OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654\r -OBR|15|673678765^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|84|copies/µL|>18|N|||F|||20241015050654\r -OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r -OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654\r -OBR|16|673678765^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|6.97|µmol/L/h|>=1.51|N|||F|||20241015050654\r -OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r -OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241015050654\r -OBR|17|673678765^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|10.38|µmol/L/h|>=0.77|N|||F|||20241015050654\r -OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r -OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654\r -OBR|18|673678765^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241015050654\r -OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r -OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241015050654\r -OBR|19|673678765^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|27.61|µmol/L/h|>=2.75|N|||F|||20241015050654\r -OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r -OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654\r -OBR|20|673678765^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r -OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241015050654\r -OBR|21|673678765^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.04|µmol/L|<=3|N|||F|||20241015050654\r -OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|391.37|µmol/L||N|||F|||20241015050654\r -OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|2.66||<=6|N|||F|||20241015050654\r -OBR|22|673678765^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r -OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241015050654\r -OBR|23|673678765^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.246|µmol/L|<0.47|N|||F|||20241015050654\r +ORC|RE|673678765^FormNumber||M17965^HospOrdNumber||||||||1477542173^BROOKS^STEWART^^^^^^^NPI|||||||||CEDARS-SINAI MEDICAL CENTER^^^^^^^^^R150|8700 BEVERLY BLVD^^W HOLLYWOOD^CA^90048-1804 +OBR|1|673678765^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410011420|||||||||||||||20241015050654|||F +OBR|2|673678765^FormNumber||57128-1^Newborn Screening Report summary panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241015050654 +OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241015050654 +OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241015050654 +OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241015050654 +OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241015050654 +OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - LONG BEACH MEMORIAL MEDICAL CENTER \\\3747 LONG BEACH BLVD, LONG BEACH, CA 90807-3309\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Acyl Carnitine Panel: An immediate referral to a CCS Metabolic Center is strongly recommended. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at UCLA Medical Center at (310) 826-4458. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241015050654 +OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241015050654 +OBR|3|673678765^FormNumber||57717-1^Newborn screen card data panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241015050654 +OBX|2|NM|8339-4^Birthweight^LN|1|4020|grams||N|||F|||20241015050654 +OBX|3|TM|57715-5^Time of birth^LN|1|1416|||N|||F|||20241015050654 +OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241015050654 +OBX|5|NM|73806-2^Newborn age in hours^LN|1|24|hour(s)||N|||F|||20241015050654 +OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241015050654 +OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241015050654 +OBX|8|CE|67704-7^Feeding types^LN|2|LA16915-3^Lactose formula^LN|||N|||F|||20241015050654 +OBX|9|TX|^^^99717-5^Accession Number^L|1|277-86-190/21-2024-32|||N|||F|||20241015050654 +OBX|10|TX|62324-9^Post-discharge provider name^LN|1|STEWART BROOKS|||N|||F|||20241015050654 +OBX|11|TX|62325-6^Post-discharge provider practice ID^LN|1|1477542173|||N|||F|||20241015050654 +OBX|12|TX|62327-2^Post-discharge provider practice address^LN|1|8700 BEVERLY BLVD W HOLLYWOOD CA 90048-1804 USA|||N|||F|||20241015050654 +OBR|4|673678765^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410011420|||||||||||||||20241015050654|||F +OBR|5|673678765^FormNumber||53261-4^Amino acid newborn screen panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|387|µmol/L||N|||F|||20241015050654 +OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|381|µmol/L|<1000|N|||F|||20241015050654 +OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|92.6|µmol/L||N|||F|||20241015050654 +OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.88595|{Ratio}|<4.3|N|||F|||20241015050654 +OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|86.8|µmol/L|<230|N|||F|||20241015050654 +OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.23|{Ratio}|<1.35|N|||F|||20241015050654 +OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|49.1|µmol/L|<175|N|||F|||20241015050654 +OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.09|{Ratio}|<2.6|N|||F|||20241015050654 +OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|45.1|µmol/L|<680|N|||F|||20241015050654 +OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.24|µmol/L|<6.1|N|||F|||20241015050654 +OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|16.8|µmol/L|6.3-100|N|||F|||20241015050654 +OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|20|µmol/L|5-49|N|||F|||20241015050654 +OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3.22|{Ratio}|<4.8|N|||F|||20241015050654 +OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|74|µmol/L|<800|N|||F|||20241015050654 +OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|3.76|{Ratio}||N|||F|||20241015050654 +OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|6|µmol/L|<63|N|||F|||20241015050654 +OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.08|{Ratio}|<1.9|N|||F|||20241015050654 +OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|118|µmol/L|<1500|N|||F|||20241015050654 +OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015050654 +OBR|6|673678765^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA11884-6^Indeterminate^LN|||A|||F|||20241015050654 +OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|This pattern of elevations is consistent with SCADD, IBCDD|||A|||F|||20241015050654 +OBR|7|673678765^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|34.3|µmol/L|6.4-125|N|||F|||20241015050654 +OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|5.93|{Ratio}|<70|N|||F|||20241015050654 +OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|33.2|µmol/L|10-80|N|||F|||20241015050654 +OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|1.29565|{Ratio}|<7.6|N|||F|||20241015050654 +OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.136|µmol/L|<0.95|N|||F|||20241015050654 +OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.150|µmol/L|<0.45|N|||F|||20241015050654 +OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.65|{Ratio}||N|||F|||20241015050654 +OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.221|µmol/L|<0.65|N|||F|||20241015050654 +OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.230|µmol/L|<0.65|N|||F|||20241015050654 +OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.088|µmol/L|<0.45|N|||F|||20241015050654 +OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.232|µmol/L|<2|N|||F|||20241015050654 +OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.20|µmol/L||N|||F|||20241015050654 +OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.342|µmol/L|<1.2|N|||F|||20241015050654 +OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.206|µmol/L|<0.9|N|||F|||20241015050654 +OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.02|{Ratio}||N|||F|||20241015050654 +OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.03|µmol/L||N|||F|||20241015050654 +OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.029|µmol/L|<0.2|N|||F|||20241015050654 +OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|4.14|µmol/L|<12|N|||F|||20241015050654 +OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.341|µmol/L|<1.4|N|||F|||20241015050654 +OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.049|µmol/L|<0.1|N|||F|||20241015050654 +OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01184|{Ratio}|<0.07|N|||F|||20241015050654 +OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|1.07|µmol/L|<3.5|N|||F|||20241015050654 +OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.65|µmol/L|<7|N|||F|||20241015050654 +OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.23|µmol/L||N|||F|||20241015050654 +OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.022|µmol/L|<0.1|N|||F|||20241015050654 +OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.053|µmol/L|<0.1|N|||F|||20241015050654 +OBR|8|673678765^FormNumber||57085-3^Organic acid newborn screen panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|2.3|µmol/L|<7.9|N|||F|||20241015050654 +OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.07|{Ratio}|<0.42|N|||F|||20241015050654 +OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.298|µmol/L|<0.48|N|||F|||20241015050654 +OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|1.73|µmol/L|<1.7|H|||F|||20241015050654 +OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.139|µmol/L|<0.95|N|||F|||20241015050654 +OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.06043|{Ratio}|<0.38|N|||F|||20241015050654 +OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.011|µmol/L|<0.5|N|||F|||20241015050654 +OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.306|µmol/L|<1.15|N|||F|||20241015050654 +OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.238|µmol/L|<0.38|N|||F|||20241015050654 +OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.79866|{Ratio}|>0.1|N|||F|||20241015050654 +OBR|9|673678765^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|18.10|ng/mL|<69|N|||F|||20241015050654 +OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 +OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015050654 +OBR|10|673678765^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00010.8|nmol/L|<85|N|||F|||20241015050654 +OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 +OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654 +OBR|11|673678765^FormNumber||54090-6^Thyroid newborn screening panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|NM|29575-8^Thyrotropin^LN|1|4.00|mIU/L|<29|N|||F|||20241015050654 +OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 +OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654 +OBR|12|673678765^FormNumber||54079-9^Galactosemia newborn screening panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|267.94|enzyme units|>50|N|||F|||20241015050654 +OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 +OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654 +OBR|13|673678765^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241015050654 +OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241015050654 +OBR|14|673678765^FormNumber||57087-9^Biotinidase newborn screening panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|44.16|ERU|>10|N|||F|||20241015050654 +OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 +OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654 +OBR|15|673678765^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|84|copies/µL|>18|N|||F|||20241015050654 +OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 +OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654 +OBR|16|673678765^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|6.97|µmol/L/h|>=1.51|N|||F|||20241015050654 +OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 +OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241015050654 +OBR|17|673678765^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|10.38|µmol/L/h|>=0.77|N|||F|||20241015050654 +OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 +OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654 +OBR|18|673678765^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241015050654 +OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 +OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241015050654 +OBR|19|673678765^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|27.61|µmol/L/h|>=2.75|N|||F|||20241015050654 +OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 +OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654 +OBR|20|673678765^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 +OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241015050654 +OBR|21|673678765^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410011420|||||||||||||||20241015050654|||F +OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.04|µmol/L|<=3|N|||F|||20241015050654 +OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|391.37|µmol/L||N|||F|||20241015050654 +OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|2.66||<=6|N|||F|||20241015050654 +OBR|22|673678765^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410011420|||||||||||||||20241015050654|||F +OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241015050654 +OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241015050654 +OBR|23|673678765^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410011420|||||||||||||||20241015050654|||F +OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.246|µmol/L|<0.47|N|||F|||20241015050654 diff --git a/examples/Test/Automated/002_ORU_R01_golden_copy_input_acylc_2.hl7 b/examples/Test/Automated/002_ORU_R01_golden_copy_input_acylc_2.hl7 index 680a34bad..eb4377c51 100644 --- a/examples/Test/Automated/002_ORU_R01_golden_copy_input_acylc_2.hl7 +++ b/examples/Test/Automated/002_ORU_R01_golden_copy_input_acylc_2.hl7 @@ -1,142 +1,142 @@ -MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9413816^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241018050234||ORU^R01^ORU_R01|002|N|2.5.1\r +MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9413816^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241018050234||ORU^R01^ORU_R01|002|N|2.5.1 PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** NK1|1|*****PII REMOVED****** -ORC|RE|12345667867^FormNumber||S30500^HospOrdNumber||||||||1194257170^MAHMOOD^SARAH^^^^^^^NPI|||||||||CEDARS-SINAI MEDICAL CENTER^^^^^^^^^R150|8700 BEVERLY BLVD^^W HOLLYWOOD^CA^90048-1804\r -OBR|1|12345667867^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410061300|||||||||||||||20241018050234|||F\r -OBR|2|12345667867^FormNumber||57128-1^Newborn Screening Report summary panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241018050234\r -OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241018050234\r -OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241018050234\r -OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241018050234\r -OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241018050234\r -OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - LONG BEACH MEMORIAL MEDICAL CENTER \\R\\3747 LONG BEACH BLVD, LONG BEACH, CA 90807-3309\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Acyl Carnitine Panel: An immediate referral to a CCS Metabolic Center is strongly recommended. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at UCLA Medical Center at (310) 826-4458. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241018050234\r -OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241018050234\r -OBR|3|12345667867^FormNumber||57717-1^Newborn screen card data panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241018050234\r -OBX|2|NM|8339-4^Birthweight^LN|1|3135|grams||N|||F|||20241018050234\r -OBX|3|TM|57715-5^Time of birth^LN|1|1235|||N|||F|||20241018050234\r -OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241018050234\r -OBX|5|NM|73806-2^Newborn age in hours^LN|1|24|hour(s)||N|||F|||20241018050234\r -OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241018050234\r -OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241018050234\r -OBX|8|TX|^^^99717-5^Accession Number^L|1|282-18-014/21-2024-32|||N|||F|||20241018050234\r -OBX|9|TX|62324-9^Post-discharge provider name^LN|1|SARAH MAHMOOD|||N|||F|||20241018050234\r -OBX|10|TX|62325-6^Post-discharge provider practice ID^LN|1|1194257170|||N|||F|||20241018050234\r -OBX|11|TX|62327-2^Post-discharge provider practice address^LN|1|8700 BEVERLY BLVD W HOLLYWOOD CA 90048-1804 USA|||N|||F|||20241018050234\r -OBR|4|12345667867^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410061300|||||||||||||||20241018050234|||F\r -OBR|5|12345667867^FormNumber||53261-4^Amino acid newborn screen panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|611|µmol/L||N|||F|||20241018050234\r -OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|585|µmol/L|<1000|N|||F|||20241018050234\r -OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|90.9|µmol/L||N|||F|||20241018050234\r -OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.74808|{Ratio}|<4.3|N|||F|||20241018050234\r -OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|86.9|µmol/L|<230|N|||F|||20241018050234\r -OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.15|{Ratio}|<1.35|N|||F|||20241018050234\r -OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|52.0|µmol/L|<175|N|||F|||20241018050234\r -OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241018050234\r -OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|69.0|µmol/L|<680|N|||F|||20241018050234\r -OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.23|µmol/L|<6.1|N|||F|||20241018050234\r -OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|22.5|µmol/L|6.3-100|N|||F|||20241018050234\r -OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|14|µmol/L|5-49|N|||F|||20241018050234\r -OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|2.28|{Ratio}|<4.8|N|||F|||20241018050234\r -OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|68|µmol/L|<800|N|||F|||20241018050234\r -OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|4.93|{Ratio}||N|||F|||20241018050234\r -OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|6|µmol/L|<63|N|||F|||20241018050234\r -OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.09|{Ratio}|<1.9|N|||F|||20241018050234\r -OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|192|µmol/L|<1500|N|||F|||20241018050234\r -OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050234\r -OBR|6|12345667867^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA11884-6^Indeterminate^LN|||A|||F|||20241018050234\r -OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|This pattern of elevations is consistent with SCADD, IBCDD|||A|||F|||20241018050234\r -OBR|7|12345667867^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|26.6|µmol/L|6.4-125|N|||F|||20241018050234\r -OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|3.27|{Ratio}|<70|N|||F|||20241018050234\r -OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|29.2|µmol/L|10-80|N|||F|||20241018050234\r -OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|2.13913|{Ratio}|<7.6|N|||F|||20241018050234\r -OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.088|µmol/L|<0.95|N|||F|||20241018050234\r -OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.084|µmol/L|<0.45|N|||F|||20241018050234\r -OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.73|{Ratio}||N|||F|||20241018050234\r -OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.172|µmol/L|<0.65|N|||F|||20241018050234\r -OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.115|µmol/L|<0.65|N|||F|||20241018050234\r -OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.050|µmol/L|<0.45|N|||F|||20241018050234\r -OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.127|µmol/L|<2|N|||F|||20241018050234\r -OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.12|µmol/L||N|||F|||20241018050234\r -OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.333|µmol/L|<1.2|N|||F|||20241018050234\r -OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.132|µmol/L|<0.9|N|||F|||20241018050234\r -OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.13|{Ratio}||N|||F|||20241018050234\r -OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.02|µmol/L||N|||F|||20241018050234\r -OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.026|µmol/L|<0.2|N|||F|||20241018050234\r -OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|6.19|µmol/L|<12|N|||F|||20241018050234\r -OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.445|µmol/L|<1.4|N|||F|||20241018050234\r -OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.045|µmol/L|<0.1|N|||F|||20241018050234\r -OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00727|{Ratio}|<0.07|N|||F|||20241018050234\r -OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|1.53|µmol/L|<3.5|N|||F|||20241018050234\r -OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.96|µmol/L|<7|N|||F|||20241018050234\r -OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.21|µmol/L||N|||F|||20241018050234\r -OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.017|µmol/L|<0.1|N|||F|||20241018050234\r -OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.036|µmol/L|<0.1|N|||F|||20241018050234\r -OBR|8|12345667867^FormNumber||57085-3^Organic acid newborn screen panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|2.5|µmol/L|<7.9|N|||F|||20241018050234\r -OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.09|{Ratio}|<0.42|N|||F|||20241018050234\r -OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.246|µmol/L|<0.48|N|||F|||20241018050234\r -OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|1.72|µmol/L|<1.7|H|||F|||20241018050234\r -OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.115|µmol/L|<0.95|N|||F|||20241018050234\r -OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.04600|{Ratio}|<0.38|N|||F|||20241018050234\r -OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.008|µmol/L|<0.5|N|||F|||20241018050234\r -OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.232|µmol/L|<1.15|N|||F|||20241018050234\r -OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.180|µmol/L|<0.38|N|||F|||20241018050234\r -OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.73171|{Ratio}|>0.1|N|||F|||20241018050234\r -OBR|9|12345667867^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|21.20|ng/mL|<69|N|||F|||20241018050234\r -OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r -OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050234\r -OBR|10|12345667867^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00015.6|nmol/L|<85|N|||F|||20241018050234\r -OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r -OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234\r -OBR|11|12345667867^FormNumber||54090-6^Thyroid newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|NM|29575-8^Thyrotropin^LN|1|9.50|mIU/L|<29|N|||F|||20241018050234\r -OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r -OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234\r -OBR|12|12345667867^FormNumber||54079-9^Galactosemia newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|262.95|enzyme units|>50|N|||F|||20241018050234\r -OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r -OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234\r -OBR|13|12345667867^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241018050234\r -OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241018050234\r -OBR|14|12345667867^FormNumber||57087-9^Biotinidase newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|49.77|ERU|>10|N|||F|||20241018050234\r -OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r -OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234\r -OBR|15|12345667867^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|197|copies/µL|>18|N|||F|||20241018050234\r -OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r -OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234\r -OBR|16|12345667867^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.29|µmol/L/h|>=1.47|N|||F|||20241018050234\r -OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r -OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241018050234\r -OBR|17|12345667867^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|13.01|µmol/L/h|>=0.82|N|||F|||20241018050234\r -OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r -OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234\r -OBR|18|12345667867^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241018050234\r -OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r -OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241018050234\r -OBR|19|12345667867^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|27.84|µmol/L/h|>=2.79|N|||F|||20241018050234\r -OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r -OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234\r -OBR|20|12345667867^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r -OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241018050234\r -OBR|21|12345667867^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|0.97|µmol/L|<=3|N|||F|||20241018050234\r -OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|496.63|µmol/L||N|||F|||20241018050234\r -OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|1.95||<=6|N|||F|||20241018050234\r -OBR|22|12345667867^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r -OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241018050234\r -OBR|23|12345667867^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.349|µmol/L|<0.47|N|||F|||20241018050234\r +ORC|RE|12345667867^FormNumber||S30500^HospOrdNumber||||||||1194257170^MAHMOOD^SARAH^^^^^^^NPI|||||||||CEDARS-SINAI MEDICAL CENTER^^^^^^^^^R150|8700 BEVERLY BLVD^^W HOLLYWOOD^CA^90048-1804 +OBR|1|12345667867^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410061300|||||||||||||||20241018050234|||F +OBR|2|12345667867^FormNumber||57128-1^Newborn Screening Report summary panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241018050234 +OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241018050234 +OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241018050234 +OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241018050234 +OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241018050234 +OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - LONG BEACH MEMORIAL MEDICAL CENTER \\\3747 LONG BEACH BLVD, LONG BEACH, CA 90807-3309\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Acyl Carnitine Panel: An immediate referral to a CCS Metabolic Center is strongly recommended. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at UCLA Medical Center at (310) 826-4458. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241018050234 +OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241018050234 +OBR|3|12345667867^FormNumber||57717-1^Newborn screen card data panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241018050234 +OBX|2|NM|8339-4^Birthweight^LN|1|3135|grams||N|||F|||20241018050234 +OBX|3|TM|57715-5^Time of birth^LN|1|1235|||N|||F|||20241018050234 +OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241018050234 +OBX|5|NM|73806-2^Newborn age in hours^LN|1|24|hour(s)||N|||F|||20241018050234 +OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241018050234 +OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241018050234 +OBX|8|TX|^^^99717-5^Accession Number^L|1|282-18-014/21-2024-32|||N|||F|||20241018050234 +OBX|9|TX|62324-9^Post-discharge provider name^LN|1|SARAH MAHMOOD|||N|||F|||20241018050234 +OBX|10|TX|62325-6^Post-discharge provider practice ID^LN|1|1194257170|||N|||F|||20241018050234 +OBX|11|TX|62327-2^Post-discharge provider practice address^LN|1|8700 BEVERLY BLVD W HOLLYWOOD CA 90048-1804 USA|||N|||F|||20241018050234 +OBR|4|12345667867^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410061300|||||||||||||||20241018050234|||F +OBR|5|12345667867^FormNumber||53261-4^Amino acid newborn screen panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|611|µmol/L||N|||F|||20241018050234 +OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|585|µmol/L|<1000|N|||F|||20241018050234 +OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|90.9|µmol/L||N|||F|||20241018050234 +OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.74808|{Ratio}|<4.3|N|||F|||20241018050234 +OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|86.9|µmol/L|<230|N|||F|||20241018050234 +OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.15|{Ratio}|<1.35|N|||F|||20241018050234 +OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|52.0|µmol/L|<175|N|||F|||20241018050234 +OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241018050234 +OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|69.0|µmol/L|<680|N|||F|||20241018050234 +OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.23|µmol/L|<6.1|N|||F|||20241018050234 +OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|22.5|µmol/L|6.3-100|N|||F|||20241018050234 +OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|14|µmol/L|5-49|N|||F|||20241018050234 +OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|2.28|{Ratio}|<4.8|N|||F|||20241018050234 +OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|68|µmol/L|<800|N|||F|||20241018050234 +OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|4.93|{Ratio}||N|||F|||20241018050234 +OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|6|µmol/L|<63|N|||F|||20241018050234 +OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.09|{Ratio}|<1.9|N|||F|||20241018050234 +OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|192|µmol/L|<1500|N|||F|||20241018050234 +OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050234 +OBR|6|12345667867^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA11884-6^Indeterminate^LN|||A|||F|||20241018050234 +OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|This pattern of elevations is consistent with SCADD, IBCDD|||A|||F|||20241018050234 +OBR|7|12345667867^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|26.6|µmol/L|6.4-125|N|||F|||20241018050234 +OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|3.27|{Ratio}|<70|N|||F|||20241018050234 +OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|29.2|µmol/L|10-80|N|||F|||20241018050234 +OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|2.13913|{Ratio}|<7.6|N|||F|||20241018050234 +OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.088|µmol/L|<0.95|N|||F|||20241018050234 +OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.084|µmol/L|<0.45|N|||F|||20241018050234 +OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.73|{Ratio}||N|||F|||20241018050234 +OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.172|µmol/L|<0.65|N|||F|||20241018050234 +OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.115|µmol/L|<0.65|N|||F|||20241018050234 +OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.050|µmol/L|<0.45|N|||F|||20241018050234 +OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.127|µmol/L|<2|N|||F|||20241018050234 +OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.12|µmol/L||N|||F|||20241018050234 +OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.333|µmol/L|<1.2|N|||F|||20241018050234 +OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.132|µmol/L|<0.9|N|||F|||20241018050234 +OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.13|{Ratio}||N|||F|||20241018050234 +OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.02|µmol/L||N|||F|||20241018050234 +OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.026|µmol/L|<0.2|N|||F|||20241018050234 +OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|6.19|µmol/L|<12|N|||F|||20241018050234 +OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.445|µmol/L|<1.4|N|||F|||20241018050234 +OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.045|µmol/L|<0.1|N|||F|||20241018050234 +OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00727|{Ratio}|<0.07|N|||F|||20241018050234 +OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|1.53|µmol/L|<3.5|N|||F|||20241018050234 +OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.96|µmol/L|<7|N|||F|||20241018050234 +OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.21|µmol/L||N|||F|||20241018050234 +OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.017|µmol/L|<0.1|N|||F|||20241018050234 +OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.036|µmol/L|<0.1|N|||F|||20241018050234 +OBR|8|12345667867^FormNumber||57085-3^Organic acid newborn screen panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|2.5|µmol/L|<7.9|N|||F|||20241018050234 +OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.09|{Ratio}|<0.42|N|||F|||20241018050234 +OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.246|µmol/L|<0.48|N|||F|||20241018050234 +OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|1.72|µmol/L|<1.7|H|||F|||20241018050234 +OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.115|µmol/L|<0.95|N|||F|||20241018050234 +OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.04600|{Ratio}|<0.38|N|||F|||20241018050234 +OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.008|µmol/L|<0.5|N|||F|||20241018050234 +OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.232|µmol/L|<1.15|N|||F|||20241018050234 +OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.180|µmol/L|<0.38|N|||F|||20241018050234 +OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.73171|{Ratio}|>0.1|N|||F|||20241018050234 +OBR|9|12345667867^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|21.20|ng/mL|<69|N|||F|||20241018050234 +OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 +OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050234 +OBR|10|12345667867^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00015.6|nmol/L|<85|N|||F|||20241018050234 +OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 +OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234 +OBR|11|12345667867^FormNumber||54090-6^Thyroid newborn screening panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|NM|29575-8^Thyrotropin^LN|1|9.50|mIU/L|<29|N|||F|||20241018050234 +OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 +OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234 +OBR|12|12345667867^FormNumber||54079-9^Galactosemia newborn screening panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|262.95|enzyme units|>50|N|||F|||20241018050234 +OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 +OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234 +OBR|13|12345667867^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241018050234 +OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241018050234 +OBR|14|12345667867^FormNumber||57087-9^Biotinidase newborn screening panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|49.77|ERU|>10|N|||F|||20241018050234 +OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 +OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234 +OBR|15|12345667867^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|197|copies/µL|>18|N|||F|||20241018050234 +OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 +OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234 +OBR|16|12345667867^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.29|µmol/L/h|>=1.47|N|||F|||20241018050234 +OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 +OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241018050234 +OBR|17|12345667867^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|13.01|µmol/L/h|>=0.82|N|||F|||20241018050234 +OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 +OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234 +OBR|18|12345667867^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241018050234 +OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 +OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241018050234 +OBR|19|12345667867^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|27.84|µmol/L/h|>=2.79|N|||F|||20241018050234 +OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 +OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234 +OBR|20|12345667867^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 +OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241018050234 +OBR|21|12345667867^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410061300|||||||||||||||20241018050234|||F +OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|0.97|µmol/L|<=3|N|||F|||20241018050234 +OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|496.63|µmol/L||N|||F|||20241018050234 +OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|1.95||<=6|N|||F|||20241018050234 +OBR|22|12345667867^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410061300|||||||||||||||20241018050234|||F +OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241018050234 +OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241018050234 +OBR|23|12345667867^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410061300|||||||||||||||20241018050234|||F +OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.349|µmol/L|<0.47|N|||F|||20241018050234 diff --git a/examples/Test/Automated/003_ORU_R01_golden_copy_input_aa_unusual.hl7 b/examples/Test/Automated/003_ORU_R01_golden_copy_input_aa_unusual.hl7 index a1ed92d13..d5fb3472e 100644 --- a/examples/Test/Automated/003_ORU_R01_golden_copy_input_aa_unusual.hl7 +++ b/examples/Test/Automated/003_ORU_R01_golden_copy_input_aa_unusual.hl7 @@ -1,142 +1,142 @@ -MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9414049^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241023050044||ORU^R01^ORU_R01|003|N|2.5.1\r +MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9414049^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241023050044||ORU^R01^ORU_R01|003|N|2.5.1 PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** NK1|1|*****PII REMOVED****** -ORC|RE|45789876^FormNumber||56352742^HospOrdNumber||||||||1043390461^PROFIT^DR JOCHEN^^^^^^^NPI|||||||||STANFORD/LUCILE PACKARD CHILDREN'S HOSPI^^^^^^^^^R777|725 WELCH RD, RM H1524^^PALO ALTO^CA^94304-1601\r -OBR|1|45789876^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBR|2|45789876^FormNumber||57128-1^Newborn Screening Report summary panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241023050044\r -OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241023050044\r -OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241023050044\r -OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241023050044\r -OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241023050044\r -OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - ALLIED LABORATORY \\R\\453 RAVENDALE DR, STE B, MOUNTAIN VIEW, CA 94043-5221\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Amino Acid Panel: An immediate referral to a CCS Metabolic Center is strongly recommended. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Stanford University Medical Center at (650) 724-8120. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241023050044\r -OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241023050044\r -OBR|3|45789876^FormNumber||57717-1^Newborn screen card data panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241023050044\r -OBX|2|NM|8339-4^Birthweight^LN|1|2230|grams||N|||F|||20241023050044\r -OBX|3|TM|57715-5^Time of birth^LN|1|1358|||N|||F|||20241023050044\r -OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12412-5^Twins^LN|||N|||F|||20241023050044\r -OBX|5|NM|73806-2^Newborn age in hours^LN|1|26|hour(s)||N|||F|||20241023050044\r -OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241023050044\r -OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241023050044\r -OBX|8|TX|^^^99717-5^Accession Number^L|1|282-38-261/21-2024-12|||N|||F|||20241023050044\r -OBX|9|TX|62324-9^Post-discharge provider name^LN|1|DR JOCHEN PROFIT|||N|||F|||20241023050044\r -OBX|10|TX|62325-6^Post-discharge provider practice ID^LN|1|1043390461|||N|||F|||20241023050044\r -OBX|11|TX|62327-2^Post-discharge provider practice address^LN|1|725 WELCH RD, RM H1524 PALO ALTO CA 94304-1601 USA|||N|||F|||20241023050044\r -OBR|4|45789876^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBR|5|45789876^FormNumber||53261-4^Amino acid newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|368|µmol/L||N|||F|||20241023050044\r -OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|310|µmol/L|<1000|N|||F|||20241023050044\r -OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|34.6|µmol/L||N|||F|||20241023050044\r -OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.06462|{Ratio}|<4.3|N|||F|||20241023050044\r -OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|50.7|µmol/L|<230|N|||F|||20241023050044\r -OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.16|{Ratio}|<1.35|N|||F|||20241023050044\r -OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|32.5|µmol/L|<175|N|||F|||20241023050044\r -OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.13|{Ratio}|<2.6|N|||F|||20241023050044\r -OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|28.9|µmol/L|<680|N|||F|||20241023050044\r -OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.25|µmol/L|<6.1|N|||F|||20241023050044\r -OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|8.6|µmol/L|6.3-100|N|||F|||20241023050044\r -OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|5|µmol/L|5-49|N|||F|||20241023050044\r -OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|1.67|{Ratio}|<4.8|N|||F|||20241023050044\r -OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|32|µmol/L|<800|N|||F|||20241023050044\r -OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|6.41|{Ratio}||N|||F|||20241023050044\r -OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|3|µmol/L|<63|N|||F|||20241023050044\r -OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.09|{Ratio}|<1.9|N|||F|||20241023050044\r -OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|55|µmol/L|<1500|N|||F|||20241023050044\r -OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|This complex pattern of elevations require further evaluation|||A|||F|||20241023050044\r -OBR|6|45789876^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r -OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241023050044\r -OBR|7|45789876^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|34.9|µmol/L|6.4-125|N|||F|||20241023050044\r -OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|7.84|{Ratio}|<70|N|||F|||20241023050044\r -OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|28.1|µmol/L|10-80|N|||F|||20241023050044\r -OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|3.53125|{Ratio}|<7.6|N|||F|||20241023050044\r -OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.034|µmol/L|<0.95|N|||F|||20241023050044\r -OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.038|µmol/L|<0.45|N|||F|||20241023050044\r -OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|1.19|{Ratio}||N|||F|||20241023050044\r -OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.155|µmol/L|<0.65|N|||F|||20241023050044\r -OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.032|µmol/L|<0.65|N|||F|||20241023050044\r -OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.030|µmol/L|<0.45|N|||F|||20241023050044\r -OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.070|µmol/L|<2|N|||F|||20241023050044\r -OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.05|µmol/L||N|||F|||20241023050044\r -OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.270|µmol/L|<1.2|N|||F|||20241023050044\r -OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.084|µmol/L|<0.9|N|||F|||20241023050044\r -OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.75|{Ratio}||N|||F|||20241023050044\r -OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.02|µmol/L||N|||F|||20241023050044\r -OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.009|µmol/L|<0.2|N|||F|||20241023050044\r -OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|2.87|µmol/L|<12|N|||F|||20241023050044\r -OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.236|µmol/L|<1.4|N|||F|||20241023050044\r -OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.022|µmol/L|<0.1|N|||F|||20241023050044\r -OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00767|{Ratio}|<0.07|N|||F|||20241023050044\r -OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|0.987|µmol/L|<3.5|N|||F|||20241023050044\r -OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.59|µmol/L|<7|N|||F|||20241023050044\r -OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.20|µmol/L||N|||F|||20241023050044\r -OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.014|µmol/L|<0.1|N|||F|||20241023050044\r -OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.034|µmol/L|<0.1|N|||F|||20241023050044\r -OBR|8|45789876^FormNumber||57085-3^Organic acid newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|1.9|µmol/L|<7.9|N|||F|||20241023050044\r -OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.07|{Ratio}|<0.42|N|||F|||20241023050044\r -OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.113|µmol/L|<0.48|N|||F|||20241023050044\r -OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.161|µmol/L|<1.7|N|||F|||20241023050044\r -OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.111|µmol/L|<0.95|N|||F|||20241023050044\r -OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.05842|{Ratio}|<0.38|N|||F|||20241023050044\r -OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.006|µmol/L|<0.5|N|||F|||20241023050044\r -OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.140|µmol/L|<1.15|N|||F|||20241023050044\r -OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.091|µmol/L|<0.38|N|||F|||20241023050044\r -OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.80531|{Ratio}|>0.1|N|||F|||20241023050044\r -OBR|9|45789876^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|27.50|ng/mL|<69|N|||F|||20241023050044\r -OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r -OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241023050044\r -OBR|10|45789876^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00029.9|nmol/L|<190|N|||F|||20241023050044\r -OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r -OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044\r -OBR|11|45789876^FormNumber||54090-6^Thyroid newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|NM|29575-8^Thyrotropin^LN|1|6.90|mIU/L|<29|N|||F|||20241023050044\r -OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r -OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044\r -OBR|12|45789876^FormNumber||54079-9^Galactosemia newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|226.51|enzyme units|>50|N|||F|||20241023050044\r -OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r -OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044\r -OBR|13|45789876^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241023050044\r -OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241023050044\r -OBR|14|45789876^FormNumber||57087-9^Biotinidase newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|28.87|ERU|>10|N|||F|||20241023050044\r -OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r -OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044\r -OBR|15|45789876^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|198|copies/µL|>18|N|||F|||20241023050044\r -OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r -OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044\r -OBR|16|45789876^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|7.91|µmol/L/h|>=1.62|N|||F|||20241023050044\r -OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r -OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241023050044\r -OBR|17|45789876^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|7.78|µmol/L/h|>=0.79|N|||F|||20241023050044\r -OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r -OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044\r -OBR|18|45789876^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241023050044\r -OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r -OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241023050044\r -OBR|19|45789876^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.94|µmol/L/h|>=2.95|N|||F|||20241023050044\r -OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r -OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044\r -OBR|20|45789876^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r -OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241023050044\r -OBR|21|45789876^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.00|µmol/L|<=3|N|||F|||20241023050044\r -OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|707.37|µmol/L||N|||F|||20241023050044\r -OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|1.41||<=6|N|||F|||20241023050044\r -OBR|22|45789876^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r -OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241023050044\r -OBR|23|45789876^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.246|µmol/L|<0.47|N|||F|||20241023050044\r +ORC|RE|45789876^FormNumber||56352742^HospOrdNumber||||||||1043390461^PROFIT^DR JOCHEN^^^^^^^NPI|||||||||STANFORD/LUCILE PACKARD CHILDREN'S HOSPI^^^^^^^^^R777|725 WELCH RD, RM H1524^^PALO ALTO^CA^94304-1601 +OBR|1|45789876^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBR|2|45789876^FormNumber||57128-1^Newborn Screening Report summary panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241023050044 +OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241023050044 +OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241023050044 +OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241023050044 +OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241023050044 +OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - ALLIED LABORATORY \\\453 RAVENDALE DR, STE B, MOUNTAIN VIEW, CA 94043-5221\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Amino Acid Panel: An immediate referral to a CCS Metabolic Center is strongly recommended. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Stanford University Medical Center at (650) 724-8120. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241023050044 +OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241023050044 +OBR|3|45789876^FormNumber||57717-1^Newborn screen card data panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241023050044 +OBX|2|NM|8339-4^Birthweight^LN|1|2230|grams||N|||F|||20241023050044 +OBX|3|TM|57715-5^Time of birth^LN|1|1358|||N|||F|||20241023050044 +OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12412-5^Twins^LN|||N|||F|||20241023050044 +OBX|5|NM|73806-2^Newborn age in hours^LN|1|26|hour(s)||N|||F|||20241023050044 +OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241023050044 +OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241023050044 +OBX|8|TX|^^^99717-5^Accession Number^L|1|282-38-261/21-2024-12|||N|||F|||20241023050044 +OBX|9|TX|62324-9^Post-discharge provider name^LN|1|DR JOCHEN PROFIT|||N|||F|||20241023050044 +OBX|10|TX|62325-6^Post-discharge provider practice ID^LN|1|1043390461|||N|||F|||20241023050044 +OBX|11|TX|62327-2^Post-discharge provider practice address^LN|1|725 WELCH RD, RM H1524 PALO ALTO CA 94304-1601 USA|||N|||F|||20241023050044 +OBR|4|45789876^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBR|5|45789876^FormNumber||53261-4^Amino acid newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|368|µmol/L||N|||F|||20241023050044 +OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|310|µmol/L|<1000|N|||F|||20241023050044 +OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|34.6|µmol/L||N|||F|||20241023050044 +OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.06462|{Ratio}|<4.3|N|||F|||20241023050044 +OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|50.7|µmol/L|<230|N|||F|||20241023050044 +OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.16|{Ratio}|<1.35|N|||F|||20241023050044 +OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|32.5|µmol/L|<175|N|||F|||20241023050044 +OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.13|{Ratio}|<2.6|N|||F|||20241023050044 +OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|28.9|µmol/L|<680|N|||F|||20241023050044 +OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.25|µmol/L|<6.1|N|||F|||20241023050044 +OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|8.6|µmol/L|6.3-100|N|||F|||20241023050044 +OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|5|µmol/L|5-49|N|||F|||20241023050044 +OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|1.67|{Ratio}|<4.8|N|||F|||20241023050044 +OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|32|µmol/L|<800|N|||F|||20241023050044 +OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|6.41|{Ratio}||N|||F|||20241023050044 +OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|3|µmol/L|<63|N|||F|||20241023050044 +OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.09|{Ratio}|<1.9|N|||F|||20241023050044 +OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|55|µmol/L|<1500|N|||F|||20241023050044 +OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|This complex pattern of elevations require further evaluation|||A|||F|||20241023050044 +OBR|6|45789876^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 +OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241023050044 +OBR|7|45789876^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|34.9|µmol/L|6.4-125|N|||F|||20241023050044 +OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|7.84|{Ratio}|<70|N|||F|||20241023050044 +OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|28.1|µmol/L|10-80|N|||F|||20241023050044 +OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|3.53125|{Ratio}|<7.6|N|||F|||20241023050044 +OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.034|µmol/L|<0.95|N|||F|||20241023050044 +OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.038|µmol/L|<0.45|N|||F|||20241023050044 +OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|1.19|{Ratio}||N|||F|||20241023050044 +OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.155|µmol/L|<0.65|N|||F|||20241023050044 +OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.032|µmol/L|<0.65|N|||F|||20241023050044 +OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.030|µmol/L|<0.45|N|||F|||20241023050044 +OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.070|µmol/L|<2|N|||F|||20241023050044 +OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.05|µmol/L||N|||F|||20241023050044 +OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.270|µmol/L|<1.2|N|||F|||20241023050044 +OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.084|µmol/L|<0.9|N|||F|||20241023050044 +OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.75|{Ratio}||N|||F|||20241023050044 +OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.02|µmol/L||N|||F|||20241023050044 +OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.009|µmol/L|<0.2|N|||F|||20241023050044 +OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|2.87|µmol/L|<12|N|||F|||20241023050044 +OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.236|µmol/L|<1.4|N|||F|||20241023050044 +OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.022|µmol/L|<0.1|N|||F|||20241023050044 +OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00767|{Ratio}|<0.07|N|||F|||20241023050044 +OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|0.987|µmol/L|<3.5|N|||F|||20241023050044 +OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.59|µmol/L|<7|N|||F|||20241023050044 +OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.20|µmol/L||N|||F|||20241023050044 +OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.014|µmol/L|<0.1|N|||F|||20241023050044 +OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.034|µmol/L|<0.1|N|||F|||20241023050044 +OBR|8|45789876^FormNumber||57085-3^Organic acid newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|1.9|µmol/L|<7.9|N|||F|||20241023050044 +OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.07|{Ratio}|<0.42|N|||F|||20241023050044 +OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.113|µmol/L|<0.48|N|||F|||20241023050044 +OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.161|µmol/L|<1.7|N|||F|||20241023050044 +OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.111|µmol/L|<0.95|N|||F|||20241023050044 +OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.05842|{Ratio}|<0.38|N|||F|||20241023050044 +OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.006|µmol/L|<0.5|N|||F|||20241023050044 +OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.140|µmol/L|<1.15|N|||F|||20241023050044 +OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.091|µmol/L|<0.38|N|||F|||20241023050044 +OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.80531|{Ratio}|>0.1|N|||F|||20241023050044 +OBR|9|45789876^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|27.50|ng/mL|<69|N|||F|||20241023050044 +OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 +OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241023050044 +OBR|10|45789876^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00029.9|nmol/L|<190|N|||F|||20241023050044 +OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 +OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044 +OBR|11|45789876^FormNumber||54090-6^Thyroid newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|NM|29575-8^Thyrotropin^LN|1|6.90|mIU/L|<29|N|||F|||20241023050044 +OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 +OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044 +OBR|12|45789876^FormNumber||54079-9^Galactosemia newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|226.51|enzyme units|>50|N|||F|||20241023050044 +OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 +OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044 +OBR|13|45789876^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241023050044 +OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241023050044 +OBR|14|45789876^FormNumber||57087-9^Biotinidase newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|28.87|ERU|>10|N|||F|||20241023050044 +OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 +OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044 +OBR|15|45789876^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|198|copies/µL|>18|N|||F|||20241023050044 +OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 +OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044 +OBR|16|45789876^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|7.91|µmol/L/h|>=1.62|N|||F|||20241023050044 +OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 +OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241023050044 +OBR|17|45789876^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|7.78|µmol/L/h|>=0.79|N|||F|||20241023050044 +OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 +OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044 +OBR|18|45789876^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241023050044 +OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 +OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241023050044 +OBR|19|45789876^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.94|µmol/L/h|>=2.95|N|||F|||20241023050044 +OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 +OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044 +OBR|20|45789876^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 +OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241023050044 +OBR|21|45789876^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.00|µmol/L|<=3|N|||F|||20241023050044 +OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|707.37|µmol/L||N|||F|||20241023050044 +OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|1.41||<=6|N|||F|||20241023050044 +OBR|22|45789876^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241023050044 +OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241023050044 +OBR|23|45789876^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.246|µmol/L|<0.47|N|||F|||20241023050044 diff --git a/examples/Test/Automated/004_ORU_R01_golden_copy_input_in_range.hl7 b/examples/Test/Automated/004_ORU_R01_golden_copy_input_in_range.hl7 index 8e0752090..8b4b6f202 100644 --- a/examples/Test/Automated/004_ORU_R01_golden_copy_input_in_range.hl7 +++ b/examples/Test/Automated/004_ORU_R01_golden_copy_input_in_range.hl7 @@ -1,142 +1,142 @@ -MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241030050154||ORU^R01^ORU_R01|004|N|2.5.1\r +MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241030050154||ORU^R01^ORU_R01|004|N|2.5.1 PID|1||335441864^^^104638912487&NPI^MR||*****PII REMOVED****** NK1|1|*****PII REMOVED****** -ORC|RE|356672001^FormNumber||629813494^HospOrdNumber||||||||1093050858^SILVA^RICHARD^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|200 W ARBOR DR^^SAN DIEGO^CA^92103-1911\r -OBR|1|356672001^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBR|2|356672001^FormNumber||57128-1^Newborn Screening Report summary panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241030050154\r -OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241030050154\r -OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA12428-1^All screening is in range for the conditions tested^LN|||N|||F|||20241030050154\r -OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241030050154\r -OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241030050154\r -OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \\R\\2130 E Illinois Avenue, FRESNO, CA 93701\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (858) 966-8708. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241030050154\r -OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241030050154\r -OBR|3|356672001^FormNumber||57717-1^Newborn screen card data panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241030050154\r -OBX|2|NM|8339-4^Birthweight^LN|1|3464|grams||N|||F|||20241030050154\r -OBX|3|TM|57715-5^Time of birth^LN|1|0444|||N|||F|||20241030050154\r -OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241030050154\r -OBX|5|NM|73806-2^Newborn age in hours^LN|1|19|hour(s)||N|||F|||20241030050154\r -OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241030050154\r -OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241030050154\r -OBX|8|TX|^^^99717-5^Accession Number^L|1|292-04-123/21-2024-32|||N|||F|||20241030050154\r -OBX|9|TX|62324-9^Post-discharge provider name^LN|1|DIANE BEDROSIAN|||N|||F|||20241030050154\r -OBX|10|TX|62325-6^Post-discharge provider practice ID^LN|1|1447323951|||N|||F|||20241030050154\r -OBX|11|TX|62327-2^Post-discharge provider practice address^LN|1|200 W ARBOR DR SAN DIEGO CA 92103-1911 USA|||N|||F|||20241030050154\r -OBR|4|356672001^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBR|5|356672001^FormNumber||53261-4^Amino acid newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|536|µmol/L||N|||F|||20241030050154\r -OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|559|µmol/L|<1000|N|||F|||20241030050154\r -OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|123|µmol/L||N|||F|||20241030050154\r -OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|2.14286|{Ratio}|<4.3|N|||F|||20241030050154\r -OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|113|µmol/L|<230|N|||F|||20241030050154\r -OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.20|{Ratio}|<1.35|N|||F|||20241030050154\r -OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|57.4|µmol/L|<175|N|||F|||20241030050154\r -OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.05|{Ratio}|<2.6|N|||F|||20241030050154\r -OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|54.8|µmol/L|<680|N|||F|||20241030050154\r -OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.20|µmol/L|<6.1|N|||F|||20241030050154\r -OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|22.8|µmol/L|6.3-100|N|||F|||20241030050154\r -OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|10|µmol/L|5-49|N|||F|||20241030050154\r -OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|1.52|{Ratio}|<4.8|N|||F|||20241030050154\r -OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|84|µmol/L|<800|N|||F|||20241030050154\r -OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|8.40|{Ratio}||N|||F|||20241030050154\r -OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|7|µmol/L|<63|N|||F|||20241030050154\r -OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.08|{Ratio}|<1.9|N|||F|||20241030050154\r -OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|154|µmol/L|<1500|N|||F|||20241030050154\r -OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241030050154\r -OBR|6|356672001^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r -OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241030050154\r -OBR|7|356672001^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|24.4|µmol/L|6.4-125|N|||F|||20241030050154\r -OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|4.32|{Ratio}|<70|N|||F|||20241030050154\r -OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|27.3|µmol/L|10-80|N|||F|||20241030050154\r -OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|2.73000|{Ratio}|<7.6|N|||F|||20241030050154\r -OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.067|µmol/L|<0.95|N|||F|||20241030050154\r -OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.076|µmol/L|<0.45|N|||F|||20241030050154\r -OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.76|{Ratio}||N|||F|||20241030050154\r -OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.103|µmol/L|<0.65|N|||F|||20241030050154\r -OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.100|µmol/L|<0.65|N|||F|||20241030050154\r -OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.035|µmol/L|<0.45|N|||F|||20241030050154\r -OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.132|µmol/L|<2|N|||F|||20241030050154\r -OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.17|µmol/L||N|||F|||20241030050154\r -OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.264|µmol/L|<1.2|N|||F|||20241030050154\r -OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.189|µmol/L|<0.9|N|||F|||20241030050154\r -OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.13|{Ratio}||N|||F|||20241030050154\r -OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.03|µmol/L||N|||F|||20241030050154\r -OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.021|µmol/L|<0.2|N|||F|||20241030050154\r -OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|3.88|µmol/L|<12|N|||F|||20241030050154\r -OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.371|µmol/L|<1.4|N|||F|||20241030050154\r -OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.030|µmol/L|<0.1|N|||F|||20241030050154\r -OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00773|{Ratio}|<0.07|N|||F|||20241030050154\r -OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|1.11|µmol/L|<3.5|N|||F|||20241030050154\r -OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.76|µmol/L|<7|N|||F|||20241030050154\r -OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.15|µmol/L||N|||F|||20241030050154\r -OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.015|µmol/L|<0.1|N|||F|||20241030050154\r -OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.032|µmol/L|<0.1|N|||F|||20241030050154\r -OBR|8|356672001^FormNumber||57085-3^Organic acid newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|2.3|µmol/L|<7.9|N|||F|||20241030050154\r -OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.09|{Ratio}|<0.42|N|||F|||20241030050154\r -OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.273|µmol/L|<0.48|N|||F|||20241030050154\r -OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.315|µmol/L|<1.7|N|||F|||20241030050154\r -OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.117|µmol/L|<0.95|N|||F|||20241030050154\r -OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.05087|{Ratio}|<0.38|N|||F|||20241030050154\r -OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.009|µmol/L|<0.5|N|||F|||20241030050154\r -OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.217|µmol/L|<1.15|N|||F|||20241030050154\r -OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.183|µmol/L|<0.38|N|||F|||20241030050154\r -OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.67033|{Ratio}|>0.1|N|||F|||20241030050154\r -OBR|9|356672001^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|27.20|ng/mL|<69|N|||F|||20241030050154\r -OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r -OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241030050154\r -OBR|10|356672001^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00015.2|nmol/L|<85|N|||F|||20241030050154\r -OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r -OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154\r -OBR|11|356672001^FormNumber||54090-6^Thyroid newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|NM|29575-8^Thyrotropin^LN|1|15.40|mIU/L|<29|N|||F|||20241030050154\r -OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r -OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154\r -OBR|12|356672001^FormNumber||54079-9^Galactosemia newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|273.54|enzyme units|>50|N|||F|||20241030050154\r -OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r -OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154\r -OBR|13|356672001^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241030050154\r -OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241030050154\r -OBR|14|356672001^FormNumber||57087-9^Biotinidase newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|73.00|ERU|>10|N|||F|||20241030050154\r -OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r -OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154\r -OBR|15|356672001^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|120|copies/µL|>18|N|||F|||20241030050154\r -OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r -OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154\r -OBR|16|356672001^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|11.43|µmol/L/h|>=1.54|N|||F|||20241030050154\r -OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r -OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241030050154\r -OBR|17|356672001^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|9.33|µmol/L/h|>=0.86|N|||F|||20241030050154\r -OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r -OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154\r -OBR|18|356672001^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241030050154\r -OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r -OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241030050154\r -OBR|19|356672001^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|22.31|µmol/L/h|>=2.84|N|||F|||20241030050154\r -OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r -OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154\r -OBR|20|356672001^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r -OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241030050154\r -OBR|21|356672001^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.22|µmol/L|<=3|N|||F|||20241030050154\r -OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|411.55|µmol/L||N|||F|||20241030050154\r -OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|2.95||<=6|N|||F|||20241030050154\r -OBR|22|356672001^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r -OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241030050154\r -OBR|23|356672001^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.138|µmol/L|<0.47|N|||F|||20241030050154\r +ORC|RE|356672001^FormNumber||629813494^HospOrdNumber||||||||1093050858^SILVA^RICHARD^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|200 W ARBOR DR^^SAN DIEGO^CA^92103-1911 +OBR|1|356672001^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBR|2|356672001^FormNumber||57128-1^Newborn Screening Report summary panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241030050154 +OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241030050154 +OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA12428-1^All screening is in range for the conditions tested^LN|||N|||F|||20241030050154 +OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241030050154 +OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241030050154 +OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \\\2130 E Illinois Avenue, FRESNO, CA 93701\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (858) 966-8708. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241030050154 +OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241030050154 +OBR|3|356672001^FormNumber||57717-1^Newborn screen card data panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241030050154 +OBX|2|NM|8339-4^Birthweight^LN|1|3464|grams||N|||F|||20241030050154 +OBX|3|TM|57715-5^Time of birth^LN|1|0444|||N|||F|||20241030050154 +OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241030050154 +OBX|5|NM|73806-2^Newborn age in hours^LN|1|19|hour(s)||N|||F|||20241030050154 +OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241030050154 +OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241030050154 +OBX|8|TX|^^^99717-5^Accession Number^L|1|292-04-123/21-2024-32|||N|||F|||20241030050154 +OBX|9|TX|62324-9^Post-discharge provider name^LN|1|DIANE BEDROSIAN|||N|||F|||20241030050154 +OBX|10|TX|62325-6^Post-discharge provider practice ID^LN|1|1447323951|||N|||F|||20241030050154 +OBX|11|TX|62327-2^Post-discharge provider practice address^LN|1|200 W ARBOR DR SAN DIEGO CA 92103-1911 USA|||N|||F|||20241030050154 +OBR|4|356672001^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBR|5|356672001^FormNumber||53261-4^Amino acid newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|536|µmol/L||N|||F|||20241030050154 +OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|559|µmol/L|<1000|N|||F|||20241030050154 +OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|123|µmol/L||N|||F|||20241030050154 +OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|2.14286|{Ratio}|<4.3|N|||F|||20241030050154 +OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|113|µmol/L|<230|N|||F|||20241030050154 +OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.20|{Ratio}|<1.35|N|||F|||20241030050154 +OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|57.4|µmol/L|<175|N|||F|||20241030050154 +OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.05|{Ratio}|<2.6|N|||F|||20241030050154 +OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|54.8|µmol/L|<680|N|||F|||20241030050154 +OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.20|µmol/L|<6.1|N|||F|||20241030050154 +OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|22.8|µmol/L|6.3-100|N|||F|||20241030050154 +OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|10|µmol/L|5-49|N|||F|||20241030050154 +OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|1.52|{Ratio}|<4.8|N|||F|||20241030050154 +OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|84|µmol/L|<800|N|||F|||20241030050154 +OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|8.40|{Ratio}||N|||F|||20241030050154 +OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|7|µmol/L|<63|N|||F|||20241030050154 +OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.08|{Ratio}|<1.9|N|||F|||20241030050154 +OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|154|µmol/L|<1500|N|||F|||20241030050154 +OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241030050154 +OBR|6|356672001^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 +OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241030050154 +OBR|7|356672001^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|24.4|µmol/L|6.4-125|N|||F|||20241030050154 +OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|4.32|{Ratio}|<70|N|||F|||20241030050154 +OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|27.3|µmol/L|10-80|N|||F|||20241030050154 +OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|2.73000|{Ratio}|<7.6|N|||F|||20241030050154 +OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.067|µmol/L|<0.95|N|||F|||20241030050154 +OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.076|µmol/L|<0.45|N|||F|||20241030050154 +OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.76|{Ratio}||N|||F|||20241030050154 +OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.103|µmol/L|<0.65|N|||F|||20241030050154 +OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.100|µmol/L|<0.65|N|||F|||20241030050154 +OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.035|µmol/L|<0.45|N|||F|||20241030050154 +OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.132|µmol/L|<2|N|||F|||20241030050154 +OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.17|µmol/L||N|||F|||20241030050154 +OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.264|µmol/L|<1.2|N|||F|||20241030050154 +OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.189|µmol/L|<0.9|N|||F|||20241030050154 +OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.13|{Ratio}||N|||F|||20241030050154 +OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.03|µmol/L||N|||F|||20241030050154 +OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.021|µmol/L|<0.2|N|||F|||20241030050154 +OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|3.88|µmol/L|<12|N|||F|||20241030050154 +OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.371|µmol/L|<1.4|N|||F|||20241030050154 +OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.030|µmol/L|<0.1|N|||F|||20241030050154 +OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00773|{Ratio}|<0.07|N|||F|||20241030050154 +OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|1.11|µmol/L|<3.5|N|||F|||20241030050154 +OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.76|µmol/L|<7|N|||F|||20241030050154 +OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.15|µmol/L||N|||F|||20241030050154 +OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.015|µmol/L|<0.1|N|||F|||20241030050154 +OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.032|µmol/L|<0.1|N|||F|||20241030050154 +OBR|8|356672001^FormNumber||57085-3^Organic acid newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|2.3|µmol/L|<7.9|N|||F|||20241030050154 +OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.09|{Ratio}|<0.42|N|||F|||20241030050154 +OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.273|µmol/L|<0.48|N|||F|||20241030050154 +OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.315|µmol/L|<1.7|N|||F|||20241030050154 +OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.117|µmol/L|<0.95|N|||F|||20241030050154 +OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.05087|{Ratio}|<0.38|N|||F|||20241030050154 +OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.009|µmol/L|<0.5|N|||F|||20241030050154 +OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.217|µmol/L|<1.15|N|||F|||20241030050154 +OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.183|µmol/L|<0.38|N|||F|||20241030050154 +OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.67033|{Ratio}|>0.1|N|||F|||20241030050154 +OBR|9|356672001^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|27.20|ng/mL|<69|N|||F|||20241030050154 +OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 +OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241030050154 +OBR|10|356672001^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00015.2|nmol/L|<85|N|||F|||20241030050154 +OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 +OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154 +OBR|11|356672001^FormNumber||54090-6^Thyroid newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|NM|29575-8^Thyrotropin^LN|1|15.40|mIU/L|<29|N|||F|||20241030050154 +OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 +OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154 +OBR|12|356672001^FormNumber||54079-9^Galactosemia newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|273.54|enzyme units|>50|N|||F|||20241030050154 +OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 +OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154 +OBR|13|356672001^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241030050154 +OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241030050154 +OBR|14|356672001^FormNumber||57087-9^Biotinidase newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|73.00|ERU|>10|N|||F|||20241030050154 +OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 +OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154 +OBR|15|356672001^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|120|copies/µL|>18|N|||F|||20241030050154 +OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 +OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154 +OBR|16|356672001^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|11.43|µmol/L/h|>=1.54|N|||F|||20241030050154 +OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 +OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241030050154 +OBR|17|356672001^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|9.33|µmol/L/h|>=0.86|N|||F|||20241030050154 +OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 +OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154 +OBR|18|356672001^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241030050154 +OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 +OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241030050154 +OBR|19|356672001^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|22.31|µmol/L/h|>=2.84|N|||F|||20241030050154 +OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 +OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154 +OBR|20|356672001^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 +OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241030050154 +OBR|21|356672001^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.22|µmol/L|<=3|N|||F|||20241030050154 +OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|411.55|µmol/L||N|||F|||20241030050154 +OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|2.95||<=6|N|||F|||20241030050154 +OBR|22|356672001^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241030050154 +OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241030050154 +OBR|23|356672001^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.138|µmol/L|<0.47|N|||F|||20241030050154 diff --git a/examples/Test/Automated/005_ORU_R01_golden_copy_input_out_of_range.hl7 b/examples/Test/Automated/005_ORU_R01_golden_copy_input_out_of_range.hl7 index 0d67e12e9..6f949201c 100644 --- a/examples/Test/Automated/005_ORU_R01_golden_copy_input_out_of_range.hl7 +++ b/examples/Test/Automated/005_ORU_R01_golden_copy_input_out_of_range.hl7 @@ -1,142 +1,142 @@ -MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9414049^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241018050017||ORU^R01^ORU_R01|005|N|2.5.1\r +MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9414049^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241018050017||ORU^R01^ORU_R01|005|N|2.5.1 PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** NK1|1|*****PII REMOVED****** -ORC|RE|753234567^FormNumber||56155532^HospOrdNumber||||||||^SCALA^MELISSA|||||||||STANFORD/LUCILE PACKARD CHILDREN'S HOSPI^^^^^^^^^R777|725 WELCH RD, RM H1524^^PALO ALTO^CA^94304-1601\r -OBR|1|753234567^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBR|1|753234567^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBR|2|753234567^FormNumber||57128-1^Newborn Screening Report summary panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241018050017\r -OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241018050017\r -OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241018050017\r -OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA16207-5^Hemoglobinopathies^LN|||N|||F|||20241018050017\r -OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241018050017\r -OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - ALLIED LABORATORY \\R\\453 RAVENDALE DR, STE B, MOUNTAIN VIEW, CA 94043-5221\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Hb: An immediate referral to a CCS Hematology Center or a pediatric hematologist familiar with alpha thalassemia and Hb H disease is strongly recommended for this infant. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Stanford University Medical Center at (650) 724-8120. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241018050017\r -OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241018050017\r -OBR|3|753234567^FormNumber||57717-1^Newborn screen card data panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241018050017\r -OBX|2|NM|8339-4^Birthweight^LN|1|2658|grams||N|||F|||20241018050017\r -OBX|3|TM|57715-5^Time of birth^LN|1|0027|||N|||F|||20241018050017\r -OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241018050017\r -OBX|5|NM|73806-2^Newborn age in hours^LN|1|28|hour(s)||N|||F|||20241018050017\r -OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241018050017\r -OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241018050017\r -OBX|8|TX|^^^99717-5^Accession Number^L|1|272-95-009/21-2024-12|||N|||F|||20241018050017\r -OBX|9|TX|62324-9^Post-discharge provider name^LN|1|MELISSA SCALA|||N|||F|||20241018050017\r -OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|725 WELCH RD, RM H1524 PALO ALTO CA 94304-1601 USA|||N|||F|||20241018050017\r -OBR|4|753234567^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBR|5|753234567^FormNumber||53261-4^Amino acid newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|926|µmol/L||N|||F|||20241018050017\r -OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|588|µmol/L|<1000|N|||F|||20241018050017\r -OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|79.4|µmol/L||N|||F|||20241018050017\r -OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.29739|{Ratio}|<4.3|N|||F|||20241018050017\r -OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|99.2|µmol/L|<230|N|||F|||20241018050017\r -OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.17|{Ratio}|<1.35|N|||F|||20241018050017\r -OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|61.2|µmol/L|<175|N|||F|||20241018050017\r -OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.77|{Ratio}|<2.6|N|||F|||20241018050017\r -OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|34.7|µmol/L|<680|N|||F|||20241018050017\r -OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.33|µmol/L|<6.1|N|||F|||20241018050017\r -OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|20.4|µmol/L|6.3-100|N|||F|||20241018050017\r -OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|10|µmol/L|5-49|N|||F|||20241018050017\r -OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|2.79|{Ratio}|<4.8|N|||F|||20241018050017\r -OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|43|µmol/L|<800|N|||F|||20241018050017\r -OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|4.44|{Ratio}||N|||F|||20241018050017\r -OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|3|µmol/L|<63|N|||F|||20241018050017\r -OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.08|{Ratio}|<1.9|N|||F|||20241018050017\r -OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|187|µmol/L|<1500|N|||F|||20241018050017\r -OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050017\r -OBR|6|753234567^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r -OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050017\r -OBR|7|753234567^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|39.6|µmol/L|6.4-125|N|||F|||20241018050017\r -OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|5.35|{Ratio}|<70|N|||F|||20241018050017\r -OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|34.7|µmol/L|10-80|N|||F|||20241018050017\r -OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|3.27536|{Ratio}|<7.6|N|||F|||20241018050017\r -OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.100|µmol/L|<0.95|N|||F|||20241018050017\r -OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.075|µmol/L|<0.45|N|||F|||20241018050017\r -OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|1.09|{Ratio}||N|||F|||20241018050017\r -OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.163|µmol/L|<0.65|N|||F|||20241018050017\r -OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.069|µmol/L|<0.65|N|||F|||20241018050017\r -OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.057|µmol/L|<0.45|N|||F|||20241018050017\r -OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.118|µmol/L|<2|N|||F|||20241018050017\r -OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.06|µmol/L||N|||F|||20241018050017\r -OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.394|µmol/L|<1.2|N|||F|||20241018050017\r -OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.130|µmol/L|<0.9|N|||F|||20241018050017\r -OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|2.32|{Ratio}||N|||F|||20241018050017\r -OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.03|µmol/L||N|||F|||20241018050017\r -OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.026|µmol/L|<0.2|N|||F|||20241018050017\r -OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5.52|µmol/L|<12|N|||F|||20241018050017\r -OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.245|µmol/L|<1.4|N|||F|||20241018050017\r -OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.042|µmol/L|<0.1|N|||F|||20241018050017\r -OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00761|{Ratio}|<0.07|N|||F|||20241018050017\r -OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2.13|µmol/L|<3.5|N|||F|||20241018050017\r -OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.89|µmol/L|<7|N|||F|||20241018050017\r -OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.29|µmol/L||N|||F|||20241018050017\r -OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.032|µmol/L|<0.1|N|||F|||20241018050017\r -OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.047|µmol/L|<0.1|N|||F|||20241018050017\r -OBR|8|753234567^FormNumber||57085-3^Organic acid newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|4.2|µmol/L|<7.9|N|||F|||20241018050017\r -OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.12|{Ratio}|<0.42|N|||F|||20241018050017\r -OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.226|µmol/L|<0.48|N|||F|||20241018050017\r -OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.424|µmol/L|<1.7|N|||F|||20241018050017\r -OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.247|µmol/L|<0.95|N|||F|||20241018050017\r -OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.05881|{Ratio}|<0.38|N|||F|||20241018050017\r -OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.008|µmol/L|<0.5|N|||F|||20241018050017\r -OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.287|µmol/L|<1.15|N|||F|||20241018050017\r -OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.179|µmol/L|<0.38|N|||F|||20241018050017\r -OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.79204|{Ratio}|>0.1|N|||F|||20241018050017\r -OBR|9|753234567^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|18.50|ng/mL|<69|N|||F|||20241018050017\r -OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r -OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050017\r -OBR|10|753234567^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00013.8|nmol/L|<85|N|||F|||20241018050017\r -OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r -OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017\r -OBR|11|753234567^FormNumber||54090-6^Thyroid newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|NM|29575-8^Thyrotropin^LN|1|2.40|mIU/L|<29|N|||F|||20241018050017\r -OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r -OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017\r -OBR|12|753234567^FormNumber||54079-9^Galactosemia newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|293.00|enzyme units|>50|N|||F|||20241018050017\r -OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r -OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017\r -OBR|13|753234567^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA + Barts||||||F|||20241018050017\r -OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|The presence of Hb Barts at a high percentage is consistent with Hb H disease, a clinically significant hemoglobin disorder.||||||F|||20241018050017\r -OBR|14|753234567^FormNumber||57087-9^Biotinidase newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|43.76|ERU|>10|N|||F|||20241018050017\r -OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r -OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017\r -OBR|15|753234567^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|99|copies/µL|>18|N|||F|||20241018050017\r -OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r -OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017\r -OBR|16|753234567^FormNumber||63414-7^Pompe Disease newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|7.09|µmol/L/h|>=1.67|N|||F|||20241018050017\r -OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r -OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241018050017\r -OBR|17|753234567^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|8.33|µmol/L/h|>=0.86|N|||F|||20241018050017\r -OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r -OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017\r -OBR|18|753234567^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241018050017\r -OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r -OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241018050017\r -OBR|19|753234567^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|15.65|µmol/L/h|>=2.8|N|||F|||20241018050017\r -OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r -OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017\r -OBR|20|753234567^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r -OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241018050017\r -OBR|21|753234567^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.05|µmol/L|<=3|N|||F|||20241018050017\r -OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|616.49|µmol/L||N|||F|||20241018050017\r -OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|1.70||<=6|N|||F|||20241018050017\r -OBR|22|753234567^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r -OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241018050017\r -OBR|23|753234567^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.260|µmol/L|<0.47|N|||F|||20241018050017\r +ORC|RE|753234567^FormNumber||56155532^HospOrdNumber||||||||^SCALA^MELISSA|||||||||STANFORD/LUCILE PACKARD CHILDREN'S HOSPI^^^^^^^^^R777|725 WELCH RD, RM H1524^^PALO ALTO^CA^94304-1601 +OBR|1|753234567^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBR|1|753234567^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBR|2|753234567^FormNumber||57128-1^Newborn Screening Report summary panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241018050017 +OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241018050017 +OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241018050017 +OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA16207-5^Hemoglobinopathies^LN|||N|||F|||20241018050017 +OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241018050017 +OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - ALLIED LABORATORY \\\453 RAVENDALE DR, STE B, MOUNTAIN VIEW, CA 94043-5221\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Hb: An immediate referral to a CCS Hematology Center or a pediatric hematologist familiar with alpha thalassemia and Hb H disease is strongly recommended for this infant. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Stanford University Medical Center at (650) 724-8120. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241018050017 +OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241018050017 +OBR|3|753234567^FormNumber||57717-1^Newborn screen card data panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241018050017 +OBX|2|NM|8339-4^Birthweight^LN|1|2658|grams||N|||F|||20241018050017 +OBX|3|TM|57715-5^Time of birth^LN|1|0027|||N|||F|||20241018050017 +OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241018050017 +OBX|5|NM|73806-2^Newborn age in hours^LN|1|28|hour(s)||N|||F|||20241018050017 +OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241018050017 +OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241018050017 +OBX|8|TX|^^^99717-5^Accession Number^L|1|272-95-009/21-2024-12|||N|||F|||20241018050017 +OBX|9|TX|62324-9^Post-discharge provider name^LN|1|MELISSA SCALA|||N|||F|||20241018050017 +OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|725 WELCH RD, RM H1524 PALO ALTO CA 94304-1601 USA|||N|||F|||20241018050017 +OBR|4|753234567^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBR|5|753234567^FormNumber||53261-4^Amino acid newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|926|µmol/L||N|||F|||20241018050017 +OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|588|µmol/L|<1000|N|||F|||20241018050017 +OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|79.4|µmol/L||N|||F|||20241018050017 +OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.29739|{Ratio}|<4.3|N|||F|||20241018050017 +OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|99.2|µmol/L|<230|N|||F|||20241018050017 +OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.17|{Ratio}|<1.35|N|||F|||20241018050017 +OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|61.2|µmol/L|<175|N|||F|||20241018050017 +OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.77|{Ratio}|<2.6|N|||F|||20241018050017 +OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|34.7|µmol/L|<680|N|||F|||20241018050017 +OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.33|µmol/L|<6.1|N|||F|||20241018050017 +OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|20.4|µmol/L|6.3-100|N|||F|||20241018050017 +OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|10|µmol/L|5-49|N|||F|||20241018050017 +OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|2.79|{Ratio}|<4.8|N|||F|||20241018050017 +OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|43|µmol/L|<800|N|||F|||20241018050017 +OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|4.44|{Ratio}||N|||F|||20241018050017 +OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|3|µmol/L|<63|N|||F|||20241018050017 +OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.08|{Ratio}|<1.9|N|||F|||20241018050017 +OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|187|µmol/L|<1500|N|||F|||20241018050017 +OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050017 +OBR|6|753234567^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 +OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050017 +OBR|7|753234567^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|39.6|µmol/L|6.4-125|N|||F|||20241018050017 +OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|5.35|{Ratio}|<70|N|||F|||20241018050017 +OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|34.7|µmol/L|10-80|N|||F|||20241018050017 +OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|3.27536|{Ratio}|<7.6|N|||F|||20241018050017 +OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.100|µmol/L|<0.95|N|||F|||20241018050017 +OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.075|µmol/L|<0.45|N|||F|||20241018050017 +OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|1.09|{Ratio}||N|||F|||20241018050017 +OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.163|µmol/L|<0.65|N|||F|||20241018050017 +OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.069|µmol/L|<0.65|N|||F|||20241018050017 +OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.057|µmol/L|<0.45|N|||F|||20241018050017 +OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.118|µmol/L|<2|N|||F|||20241018050017 +OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.06|µmol/L||N|||F|||20241018050017 +OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.394|µmol/L|<1.2|N|||F|||20241018050017 +OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.130|µmol/L|<0.9|N|||F|||20241018050017 +OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|2.32|{Ratio}||N|||F|||20241018050017 +OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.03|µmol/L||N|||F|||20241018050017 +OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.026|µmol/L|<0.2|N|||F|||20241018050017 +OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5.52|µmol/L|<12|N|||F|||20241018050017 +OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.245|µmol/L|<1.4|N|||F|||20241018050017 +OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.042|µmol/L|<0.1|N|||F|||20241018050017 +OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00761|{Ratio}|<0.07|N|||F|||20241018050017 +OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2.13|µmol/L|<3.5|N|||F|||20241018050017 +OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.89|µmol/L|<7|N|||F|||20241018050017 +OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.29|µmol/L||N|||F|||20241018050017 +OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.032|µmol/L|<0.1|N|||F|||20241018050017 +OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.047|µmol/L|<0.1|N|||F|||20241018050017 +OBR|8|753234567^FormNumber||57085-3^Organic acid newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|4.2|µmol/L|<7.9|N|||F|||20241018050017 +OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.12|{Ratio}|<0.42|N|||F|||20241018050017 +OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.226|µmol/L|<0.48|N|||F|||20241018050017 +OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.424|µmol/L|<1.7|N|||F|||20241018050017 +OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.247|µmol/L|<0.95|N|||F|||20241018050017 +OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.05881|{Ratio}|<0.38|N|||F|||20241018050017 +OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.008|µmol/L|<0.5|N|||F|||20241018050017 +OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.287|µmol/L|<1.15|N|||F|||20241018050017 +OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.179|µmol/L|<0.38|N|||F|||20241018050017 +OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.79204|{Ratio}|>0.1|N|||F|||20241018050017 +OBR|9|753234567^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|18.50|ng/mL|<69|N|||F|||20241018050017 +OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 +OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050017 +OBR|10|753234567^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00013.8|nmol/L|<85|N|||F|||20241018050017 +OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 +OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017 +OBR|11|753234567^FormNumber||54090-6^Thyroid newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|NM|29575-8^Thyrotropin^LN|1|2.40|mIU/L|<29|N|||F|||20241018050017 +OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 +OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017 +OBR|12|753234567^FormNumber||54079-9^Galactosemia newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|293.00|enzyme units|>50|N|||F|||20241018050017 +OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 +OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017 +OBR|13|753234567^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA + Barts||||||F|||20241018050017 +OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|The presence of Hb Barts at a high percentage is consistent with Hb H disease, a clinically significant hemoglobin disorder.||||||F|||20241018050017 +OBR|14|753234567^FormNumber||57087-9^Biotinidase newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|43.76|ERU|>10|N|||F|||20241018050017 +OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 +OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017 +OBR|15|753234567^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|99|copies/µL|>18|N|||F|||20241018050017 +OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 +OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017 +OBR|16|753234567^FormNumber||63414-7^Pompe Disease newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|7.09|µmol/L/h|>=1.67|N|||F|||20241018050017 +OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 +OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241018050017 +OBR|17|753234567^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|8.33|µmol/L/h|>=0.86|N|||F|||20241018050017 +OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 +OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017 +OBR|18|753234567^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241018050017 +OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 +OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241018050017 +OBR|19|753234567^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|15.65|µmol/L/h|>=2.8|N|||F|||20241018050017 +OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 +OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017 +OBR|20|753234567^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 +OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241018050017 +OBR|21|753234567^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.05|µmol/L|<=3|N|||F|||20241018050017 +OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|616.49|µmol/L||N|||F|||20241018050017 +OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|1.70||<=6|N|||F|||20241018050017 +OBR|22|753234567^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241018050017 +OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241018050017 +OBR|23|753234567^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.260|µmol/L|<0.47|N|||F|||20241018050017 From 71a243d20f8be0034f3157f6721f895b9b10536b Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Thu, 19 Dec 2024 14:13:04 -0700 Subject: [PATCH 22/61] add double quotes to if statement Co-authored-by: jcrichlake <145698165+jcrichlake@users.noreply.github.com> --- .github/workflows/automated-staging-test-submit.yml | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/.github/workflows/automated-staging-test-submit.yml b/.github/workflows/automated-staging-test-submit.yml index ab4b53567..594c5aa28 100644 --- a/.github/workflows/automated-staging-test-submit.yml +++ b/.github/workflows/automated-staging-test-submit.yml @@ -53,7 +53,7 @@ jobs: "$host/api/token" | jq -r ".access_token") file_path=Automated/*.hl7 - if [ ${{ github.event.inputs.name }} == "Golden Copy Staging Test" ]; then + if [ "${{ github.event.inputs.name }}" == "Golden Copy Staging Test" ]; then file_path=GoldenCopy/Input/*.hl7 fi From 24e5ac38651c264ca081350a41e1487b54614a7b Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Thu, 19 Dec 2024 14:27:17 -0700 Subject: [PATCH 23/61] add golden copy versions of example files and revert to og directory structure Co-authored-by: jcrichlake <145698165+jcrichlake@users.noreply.github.com> --- .../001_ORU_R01_golden_copy_input_acylc_1.hl7 | 143 --------- ...taging_ORM_O01_short_linked_to_002_ORU.hl7 | 0 .../002_ORU_R01_golden_copy_input_acylc_2.hl7 | 142 --------- ...taging_ORU_O01_short_linked_to_001_ORM.hl7 | 0 .../003_CA_ORU_R01_CDPH_produced.hl7 | 0 ...3_ORU_R01_golden_copy_input_aa_unusual.hl7 | 142 --------- .../004_CA_ORU_R01_leading_zeroes.hl7 | 0 ...004_ORU_R01_golden_copy_input_in_range.hl7 | 142 --------- .../005_CA_ORU_R01_no_leading_zeroes.hl7 | 0 ...ORU_R01_golden_copy_input_out_of_range.hl7 | 142 --------- .../006_CA_ORU_R01_LOINC.hl7 | 0 .../007_CA_ORU_R01_PLT.hl7 | 0 .../008_ORU_R01_micro_character_encoding.hl7 | 0 .../009_CA_ORU_R01_remove_99717-5_OBX.hl7 | 0 ...01_NBS_0_initial_obr_flatten_example_1.hl7 | 0 ..._ORU_R01_golden_copy_expected_acylc_1.fhir | 1 + ..._ORU_R01_golden_copy_expected_acylc_2.fhir | 1 + ...U_R01_golden_copy_expected_aa_unusual.fhir | 1 + ...ORU_R01_golden_copy_expected_in_range.fhir | 1 + ...R01_golden_copy_expected_out_of_range.fhir | 1 + .../001_ORU_R01_golden_copy_input_acylc_1.hl7 | 282 +++++++++--------- .../002_ORU_R01_golden_copy_input_acylc_2.hl7 | 280 ++++++++--------- ...3_ORU_R01_golden_copy_input_aa_unusual.hl7 | 280 ++++++++--------- ...004_ORU_R01_golden_copy_input_in_range.hl7 | 280 ++++++++--------- ...ORU_R01_golden_copy_input_out_of_range.hl7 | 280 ++++++++--------- ...U_R01_golden_copy_input_sma_incomplete.hl7 | 141 +++++++++ examples/Test/GoldenCopy/README.md | 11 + 27 files changed, 858 insertions(+), 1412 deletions(-) delete mode 100644 examples/Test/Automated/001_ORU_R01_golden_copy_input_acylc_1.hl7 rename examples/Test/{tempStorage => Automated}/001_Staging_ORM_O01_short_linked_to_002_ORU.hl7 (100%) delete mode 100644 examples/Test/Automated/002_ORU_R01_golden_copy_input_acylc_2.hl7 rename examples/Test/{tempStorage => Automated}/002_Staging_ORU_O01_short_linked_to_001_ORM.hl7 (100%) rename examples/Test/{tempStorage => Automated}/003_CA_ORU_R01_CDPH_produced.hl7 (100%) delete mode 100644 examples/Test/Automated/003_ORU_R01_golden_copy_input_aa_unusual.hl7 rename examples/Test/{tempStorage => Automated}/004_CA_ORU_R01_leading_zeroes.hl7 (100%) delete mode 100644 examples/Test/Automated/004_ORU_R01_golden_copy_input_in_range.hl7 rename examples/Test/{tempStorage => Automated}/005_CA_ORU_R01_no_leading_zeroes.hl7 (100%) delete mode 100644 examples/Test/Automated/005_ORU_R01_golden_copy_input_out_of_range.hl7 rename examples/Test/{tempStorage => Automated}/006_CA_ORU_R01_LOINC.hl7 (100%) rename examples/Test/{tempStorage => Automated}/007_CA_ORU_R01_PLT.hl7 (100%) rename examples/Test/{tempStorage => Automated}/008_ORU_R01_micro_character_encoding.hl7 (100%) rename examples/Test/{tempStorage => Automated}/009_CA_ORU_R01_remove_99717-5_OBX.hl7 (100%) rename examples/Test/{tempStorage => Automated}/010_LA_ORU_R01_NBS_0_initial_obr_flatten_example_1.hl7 (100%) create mode 100644 examples/Test/GoldenCopy/Expected/001_ORU_R01_golden_copy_expected_acylc_1.fhir create mode 100644 examples/Test/GoldenCopy/Expected/002_ORU_R01_golden_copy_expected_acylc_2.fhir create mode 100644 examples/Test/GoldenCopy/Expected/003_ORU_R01_golden_copy_expected_aa_unusual.fhir create mode 100644 examples/Test/GoldenCopy/Expected/004_ORU_R01_golden_copy_expected_in_range.fhir create mode 100644 examples/Test/GoldenCopy/Expected/005_ORU_R01_golden_copy_expected_out_of_range.fhir create mode 100644 examples/Test/GoldenCopy/Input/006_ORU_R01_golden_copy_input_sma_incomplete.hl7 diff --git a/examples/Test/Automated/001_ORU_R01_golden_copy_input_acylc_1.hl7 b/examples/Test/Automated/001_ORU_R01_golden_copy_input_acylc_1.hl7 deleted file mode 100644 index a93c6ef84..000000000 --- a/examples/Test/Automated/001_ORU_R01_golden_copy_input_acylc_1.hl7 +++ /dev/null @@ -1,143 +0,0 @@ -MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9413816^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241015050654||ORU^R01^ORU_R01|001|N|2.5.1 -PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** -NK1|1|*****PII REMOVED****** -ORC|RE|673678765^FormNumber||M17965^HospOrdNumber||||||||1477542173^BROOKS^STEWART^^^^^^^NPI|||||||||CEDARS-SINAI MEDICAL CENTER^^^^^^^^^R150|8700 BEVERLY BLVD^^W HOLLYWOOD^CA^90048-1804 -OBR|1|673678765^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410011420|||||||||||||||20241015050654|||F -OBR|2|673678765^FormNumber||57128-1^Newborn Screening Report summary panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241015050654 -OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241015050654 -OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241015050654 -OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241015050654 -OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241015050654 -OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - LONG BEACH MEMORIAL MEDICAL CENTER \\\3747 LONG BEACH BLVD, LONG BEACH, CA 90807-3309\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Acyl Carnitine Panel: An immediate referral to a CCS Metabolic Center is strongly recommended. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at UCLA Medical Center at (310) 826-4458. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241015050654 -OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241015050654 -OBR|3|673678765^FormNumber||57717-1^Newborn screen card data panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241015050654 -OBX|2|NM|8339-4^Birthweight^LN|1|4020|grams||N|||F|||20241015050654 -OBX|3|TM|57715-5^Time of birth^LN|1|1416|||N|||F|||20241015050654 -OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241015050654 -OBX|5|NM|73806-2^Newborn age in hours^LN|1|24|hour(s)||N|||F|||20241015050654 -OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241015050654 -OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241015050654 -OBX|8|CE|67704-7^Feeding types^LN|2|LA16915-3^Lactose formula^LN|||N|||F|||20241015050654 -OBX|9|TX|^^^99717-5^Accession Number^L|1|277-86-190/21-2024-32|||N|||F|||20241015050654 -OBX|10|TX|62324-9^Post-discharge provider name^LN|1|STEWART BROOKS|||N|||F|||20241015050654 -OBX|11|TX|62325-6^Post-discharge provider practice ID^LN|1|1477542173|||N|||F|||20241015050654 -OBX|12|TX|62327-2^Post-discharge provider practice address^LN|1|8700 BEVERLY BLVD W HOLLYWOOD CA 90048-1804 USA|||N|||F|||20241015050654 -OBR|4|673678765^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410011420|||||||||||||||20241015050654|||F -OBR|5|673678765^FormNumber||53261-4^Amino acid newborn screen panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|387|µmol/L||N|||F|||20241015050654 -OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|381|µmol/L|<1000|N|||F|||20241015050654 -OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|92.6|µmol/L||N|||F|||20241015050654 -OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.88595|{Ratio}|<4.3|N|||F|||20241015050654 -OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|86.8|µmol/L|<230|N|||F|||20241015050654 -OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.23|{Ratio}|<1.35|N|||F|||20241015050654 -OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|49.1|µmol/L|<175|N|||F|||20241015050654 -OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.09|{Ratio}|<2.6|N|||F|||20241015050654 -OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|45.1|µmol/L|<680|N|||F|||20241015050654 -OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.24|µmol/L|<6.1|N|||F|||20241015050654 -OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|16.8|µmol/L|6.3-100|N|||F|||20241015050654 -OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|20|µmol/L|5-49|N|||F|||20241015050654 -OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3.22|{Ratio}|<4.8|N|||F|||20241015050654 -OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|74|µmol/L|<800|N|||F|||20241015050654 -OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|3.76|{Ratio}||N|||F|||20241015050654 -OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|6|µmol/L|<63|N|||F|||20241015050654 -OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.08|{Ratio}|<1.9|N|||F|||20241015050654 -OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|118|µmol/L|<1500|N|||F|||20241015050654 -OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015050654 -OBR|6|673678765^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA11884-6^Indeterminate^LN|||A|||F|||20241015050654 -OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|This pattern of elevations is consistent with SCADD, IBCDD|||A|||F|||20241015050654 -OBR|7|673678765^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|34.3|µmol/L|6.4-125|N|||F|||20241015050654 -OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|5.93|{Ratio}|<70|N|||F|||20241015050654 -OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|33.2|µmol/L|10-80|N|||F|||20241015050654 -OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|1.29565|{Ratio}|<7.6|N|||F|||20241015050654 -OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.136|µmol/L|<0.95|N|||F|||20241015050654 -OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.150|µmol/L|<0.45|N|||F|||20241015050654 -OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.65|{Ratio}||N|||F|||20241015050654 -OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.221|µmol/L|<0.65|N|||F|||20241015050654 -OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.230|µmol/L|<0.65|N|||F|||20241015050654 -OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.088|µmol/L|<0.45|N|||F|||20241015050654 -OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.232|µmol/L|<2|N|||F|||20241015050654 -OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.20|µmol/L||N|||F|||20241015050654 -OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.342|µmol/L|<1.2|N|||F|||20241015050654 -OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.206|µmol/L|<0.9|N|||F|||20241015050654 -OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.02|{Ratio}||N|||F|||20241015050654 -OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.03|µmol/L||N|||F|||20241015050654 -OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.029|µmol/L|<0.2|N|||F|||20241015050654 -OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|4.14|µmol/L|<12|N|||F|||20241015050654 -OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.341|µmol/L|<1.4|N|||F|||20241015050654 -OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.049|µmol/L|<0.1|N|||F|||20241015050654 -OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01184|{Ratio}|<0.07|N|||F|||20241015050654 -OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|1.07|µmol/L|<3.5|N|||F|||20241015050654 -OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.65|µmol/L|<7|N|||F|||20241015050654 -OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.23|µmol/L||N|||F|||20241015050654 -OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.022|µmol/L|<0.1|N|||F|||20241015050654 -OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.053|µmol/L|<0.1|N|||F|||20241015050654 -OBR|8|673678765^FormNumber||57085-3^Organic acid newborn screen panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|2.3|µmol/L|<7.9|N|||F|||20241015050654 -OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.07|{Ratio}|<0.42|N|||F|||20241015050654 -OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.298|µmol/L|<0.48|N|||F|||20241015050654 -OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|1.73|µmol/L|<1.7|H|||F|||20241015050654 -OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.139|µmol/L|<0.95|N|||F|||20241015050654 -OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.06043|{Ratio}|<0.38|N|||F|||20241015050654 -OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.011|µmol/L|<0.5|N|||F|||20241015050654 -OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.306|µmol/L|<1.15|N|||F|||20241015050654 -OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.238|µmol/L|<0.38|N|||F|||20241015050654 -OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.79866|{Ratio}|>0.1|N|||F|||20241015050654 -OBR|9|673678765^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|18.10|ng/mL|<69|N|||F|||20241015050654 -OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 -OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015050654 -OBR|10|673678765^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00010.8|nmol/L|<85|N|||F|||20241015050654 -OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 -OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654 -OBR|11|673678765^FormNumber||54090-6^Thyroid newborn screening panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|NM|29575-8^Thyrotropin^LN|1|4.00|mIU/L|<29|N|||F|||20241015050654 -OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 -OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654 -OBR|12|673678765^FormNumber||54079-9^Galactosemia newborn screening panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|267.94|enzyme units|>50|N|||F|||20241015050654 -OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 -OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654 -OBR|13|673678765^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241015050654 -OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241015050654 -OBR|14|673678765^FormNumber||57087-9^Biotinidase newborn screening panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|44.16|ERU|>10|N|||F|||20241015050654 -OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 -OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654 -OBR|15|673678765^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|84|copies/µL|>18|N|||F|||20241015050654 -OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 -OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654 -OBR|16|673678765^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|6.97|µmol/L/h|>=1.51|N|||F|||20241015050654 -OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 -OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241015050654 -OBR|17|673678765^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|10.38|µmol/L/h|>=0.77|N|||F|||20241015050654 -OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 -OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654 -OBR|18|673678765^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241015050654 -OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 -OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241015050654 -OBR|19|673678765^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|27.61|µmol/L/h|>=2.75|N|||F|||20241015050654 -OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 -OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654 -OBR|20|673678765^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 -OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241015050654 -OBR|21|673678765^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410011420|||||||||||||||20241015050654|||F -OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.04|µmol/L|<=3|N|||F|||20241015050654 -OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|391.37|µmol/L||N|||F|||20241015050654 -OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|2.66||<=6|N|||F|||20241015050654 -OBR|22|673678765^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410011420|||||||||||||||20241015050654|||F -OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241015050654 -OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241015050654 -OBR|23|673678765^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410011420|||||||||||||||20241015050654|||F -OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.246|µmol/L|<0.47|N|||F|||20241015050654 diff --git a/examples/Test/tempStorage/001_Staging_ORM_O01_short_linked_to_002_ORU.hl7 b/examples/Test/Automated/001_Staging_ORM_O01_short_linked_to_002_ORU.hl7 similarity index 100% rename from examples/Test/tempStorage/001_Staging_ORM_O01_short_linked_to_002_ORU.hl7 rename to examples/Test/Automated/001_Staging_ORM_O01_short_linked_to_002_ORU.hl7 diff --git a/examples/Test/Automated/002_ORU_R01_golden_copy_input_acylc_2.hl7 b/examples/Test/Automated/002_ORU_R01_golden_copy_input_acylc_2.hl7 deleted file mode 100644 index eb4377c51..000000000 --- a/examples/Test/Automated/002_ORU_R01_golden_copy_input_acylc_2.hl7 +++ /dev/null @@ -1,142 +0,0 @@ -MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9413816^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241018050234||ORU^R01^ORU_R01|002|N|2.5.1 -PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** -NK1|1|*****PII REMOVED****** -ORC|RE|12345667867^FormNumber||S30500^HospOrdNumber||||||||1194257170^MAHMOOD^SARAH^^^^^^^NPI|||||||||CEDARS-SINAI MEDICAL CENTER^^^^^^^^^R150|8700 BEVERLY BLVD^^W HOLLYWOOD^CA^90048-1804 -OBR|1|12345667867^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410061300|||||||||||||||20241018050234|||F -OBR|2|12345667867^FormNumber||57128-1^Newborn Screening Report summary panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241018050234 -OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241018050234 -OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241018050234 -OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241018050234 -OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241018050234 -OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - LONG BEACH MEMORIAL MEDICAL CENTER \\\3747 LONG BEACH BLVD, LONG BEACH, CA 90807-3309\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Acyl Carnitine Panel: An immediate referral to a CCS Metabolic Center is strongly recommended. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at UCLA Medical Center at (310) 826-4458. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241018050234 -OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241018050234 -OBR|3|12345667867^FormNumber||57717-1^Newborn screen card data panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241018050234 -OBX|2|NM|8339-4^Birthweight^LN|1|3135|grams||N|||F|||20241018050234 -OBX|3|TM|57715-5^Time of birth^LN|1|1235|||N|||F|||20241018050234 -OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241018050234 -OBX|5|NM|73806-2^Newborn age in hours^LN|1|24|hour(s)||N|||F|||20241018050234 -OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241018050234 -OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241018050234 -OBX|8|TX|^^^99717-5^Accession Number^L|1|282-18-014/21-2024-32|||N|||F|||20241018050234 -OBX|9|TX|62324-9^Post-discharge provider name^LN|1|SARAH MAHMOOD|||N|||F|||20241018050234 -OBX|10|TX|62325-6^Post-discharge provider practice ID^LN|1|1194257170|||N|||F|||20241018050234 -OBX|11|TX|62327-2^Post-discharge provider practice address^LN|1|8700 BEVERLY BLVD W HOLLYWOOD CA 90048-1804 USA|||N|||F|||20241018050234 -OBR|4|12345667867^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410061300|||||||||||||||20241018050234|||F -OBR|5|12345667867^FormNumber||53261-4^Amino acid newborn screen panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|611|µmol/L||N|||F|||20241018050234 -OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|585|µmol/L|<1000|N|||F|||20241018050234 -OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|90.9|µmol/L||N|||F|||20241018050234 -OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.74808|{Ratio}|<4.3|N|||F|||20241018050234 -OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|86.9|µmol/L|<230|N|||F|||20241018050234 -OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.15|{Ratio}|<1.35|N|||F|||20241018050234 -OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|52.0|µmol/L|<175|N|||F|||20241018050234 -OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241018050234 -OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|69.0|µmol/L|<680|N|||F|||20241018050234 -OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.23|µmol/L|<6.1|N|||F|||20241018050234 -OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|22.5|µmol/L|6.3-100|N|||F|||20241018050234 -OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|14|µmol/L|5-49|N|||F|||20241018050234 -OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|2.28|{Ratio}|<4.8|N|||F|||20241018050234 -OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|68|µmol/L|<800|N|||F|||20241018050234 -OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|4.93|{Ratio}||N|||F|||20241018050234 -OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|6|µmol/L|<63|N|||F|||20241018050234 -OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.09|{Ratio}|<1.9|N|||F|||20241018050234 -OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|192|µmol/L|<1500|N|||F|||20241018050234 -OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050234 -OBR|6|12345667867^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA11884-6^Indeterminate^LN|||A|||F|||20241018050234 -OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|This pattern of elevations is consistent with SCADD, IBCDD|||A|||F|||20241018050234 -OBR|7|12345667867^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|26.6|µmol/L|6.4-125|N|||F|||20241018050234 -OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|3.27|{Ratio}|<70|N|||F|||20241018050234 -OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|29.2|µmol/L|10-80|N|||F|||20241018050234 -OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|2.13913|{Ratio}|<7.6|N|||F|||20241018050234 -OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.088|µmol/L|<0.95|N|||F|||20241018050234 -OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.084|µmol/L|<0.45|N|||F|||20241018050234 -OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.73|{Ratio}||N|||F|||20241018050234 -OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.172|µmol/L|<0.65|N|||F|||20241018050234 -OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.115|µmol/L|<0.65|N|||F|||20241018050234 -OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.050|µmol/L|<0.45|N|||F|||20241018050234 -OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.127|µmol/L|<2|N|||F|||20241018050234 -OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.12|µmol/L||N|||F|||20241018050234 -OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.333|µmol/L|<1.2|N|||F|||20241018050234 -OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.132|µmol/L|<0.9|N|||F|||20241018050234 -OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.13|{Ratio}||N|||F|||20241018050234 -OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.02|µmol/L||N|||F|||20241018050234 -OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.026|µmol/L|<0.2|N|||F|||20241018050234 -OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|6.19|µmol/L|<12|N|||F|||20241018050234 -OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.445|µmol/L|<1.4|N|||F|||20241018050234 -OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.045|µmol/L|<0.1|N|||F|||20241018050234 -OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00727|{Ratio}|<0.07|N|||F|||20241018050234 -OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|1.53|µmol/L|<3.5|N|||F|||20241018050234 -OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.96|µmol/L|<7|N|||F|||20241018050234 -OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.21|µmol/L||N|||F|||20241018050234 -OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.017|µmol/L|<0.1|N|||F|||20241018050234 -OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.036|µmol/L|<0.1|N|||F|||20241018050234 -OBR|8|12345667867^FormNumber||57085-3^Organic acid newborn screen panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|2.5|µmol/L|<7.9|N|||F|||20241018050234 -OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.09|{Ratio}|<0.42|N|||F|||20241018050234 -OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.246|µmol/L|<0.48|N|||F|||20241018050234 -OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|1.72|µmol/L|<1.7|H|||F|||20241018050234 -OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.115|µmol/L|<0.95|N|||F|||20241018050234 -OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.04600|{Ratio}|<0.38|N|||F|||20241018050234 -OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.008|µmol/L|<0.5|N|||F|||20241018050234 -OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.232|µmol/L|<1.15|N|||F|||20241018050234 -OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.180|µmol/L|<0.38|N|||F|||20241018050234 -OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.73171|{Ratio}|>0.1|N|||F|||20241018050234 -OBR|9|12345667867^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|21.20|ng/mL|<69|N|||F|||20241018050234 -OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 -OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050234 -OBR|10|12345667867^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00015.6|nmol/L|<85|N|||F|||20241018050234 -OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 -OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234 -OBR|11|12345667867^FormNumber||54090-6^Thyroid newborn screening panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|NM|29575-8^Thyrotropin^LN|1|9.50|mIU/L|<29|N|||F|||20241018050234 -OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 -OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234 -OBR|12|12345667867^FormNumber||54079-9^Galactosemia newborn screening panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|262.95|enzyme units|>50|N|||F|||20241018050234 -OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 -OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234 -OBR|13|12345667867^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241018050234 -OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241018050234 -OBR|14|12345667867^FormNumber||57087-9^Biotinidase newborn screening panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|49.77|ERU|>10|N|||F|||20241018050234 -OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 -OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234 -OBR|15|12345667867^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|197|copies/µL|>18|N|||F|||20241018050234 -OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 -OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234 -OBR|16|12345667867^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.29|µmol/L/h|>=1.47|N|||F|||20241018050234 -OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 -OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241018050234 -OBR|17|12345667867^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|13.01|µmol/L/h|>=0.82|N|||F|||20241018050234 -OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 -OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234 -OBR|18|12345667867^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241018050234 -OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 -OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241018050234 -OBR|19|12345667867^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|27.84|µmol/L/h|>=2.79|N|||F|||20241018050234 -OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 -OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234 -OBR|20|12345667867^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 -OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241018050234 -OBR|21|12345667867^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410061300|||||||||||||||20241018050234|||F -OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|0.97|µmol/L|<=3|N|||F|||20241018050234 -OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|496.63|µmol/L||N|||F|||20241018050234 -OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|1.95||<=6|N|||F|||20241018050234 -OBR|22|12345667867^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410061300|||||||||||||||20241018050234|||F -OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241018050234 -OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241018050234 -OBR|23|12345667867^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410061300|||||||||||||||20241018050234|||F -OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.349|µmol/L|<0.47|N|||F|||20241018050234 diff --git a/examples/Test/tempStorage/002_Staging_ORU_O01_short_linked_to_001_ORM.hl7 b/examples/Test/Automated/002_Staging_ORU_O01_short_linked_to_001_ORM.hl7 similarity index 100% rename from examples/Test/tempStorage/002_Staging_ORU_O01_short_linked_to_001_ORM.hl7 rename to examples/Test/Automated/002_Staging_ORU_O01_short_linked_to_001_ORM.hl7 diff --git a/examples/Test/tempStorage/003_CA_ORU_R01_CDPH_produced.hl7 b/examples/Test/Automated/003_CA_ORU_R01_CDPH_produced.hl7 similarity index 100% rename from examples/Test/tempStorage/003_CA_ORU_R01_CDPH_produced.hl7 rename to examples/Test/Automated/003_CA_ORU_R01_CDPH_produced.hl7 diff --git a/examples/Test/Automated/003_ORU_R01_golden_copy_input_aa_unusual.hl7 b/examples/Test/Automated/003_ORU_R01_golden_copy_input_aa_unusual.hl7 deleted file mode 100644 index d5fb3472e..000000000 --- a/examples/Test/Automated/003_ORU_R01_golden_copy_input_aa_unusual.hl7 +++ /dev/null @@ -1,142 +0,0 @@ -MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9414049^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241023050044||ORU^R01^ORU_R01|003|N|2.5.1 -PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** -NK1|1|*****PII REMOVED****** -ORC|RE|45789876^FormNumber||56352742^HospOrdNumber||||||||1043390461^PROFIT^DR JOCHEN^^^^^^^NPI|||||||||STANFORD/LUCILE PACKARD CHILDREN'S HOSPI^^^^^^^^^R777|725 WELCH RD, RM H1524^^PALO ALTO^CA^94304-1601 -OBR|1|45789876^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBR|2|45789876^FormNumber||57128-1^Newborn Screening Report summary panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241023050044 -OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241023050044 -OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241023050044 -OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241023050044 -OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241023050044 -OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - ALLIED LABORATORY \\\453 RAVENDALE DR, STE B, MOUNTAIN VIEW, CA 94043-5221\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Amino Acid Panel: An immediate referral to a CCS Metabolic Center is strongly recommended. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Stanford University Medical Center at (650) 724-8120. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241023050044 -OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241023050044 -OBR|3|45789876^FormNumber||57717-1^Newborn screen card data panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241023050044 -OBX|2|NM|8339-4^Birthweight^LN|1|2230|grams||N|||F|||20241023050044 -OBX|3|TM|57715-5^Time of birth^LN|1|1358|||N|||F|||20241023050044 -OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12412-5^Twins^LN|||N|||F|||20241023050044 -OBX|5|NM|73806-2^Newborn age in hours^LN|1|26|hour(s)||N|||F|||20241023050044 -OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241023050044 -OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241023050044 -OBX|8|TX|^^^99717-5^Accession Number^L|1|282-38-261/21-2024-12|||N|||F|||20241023050044 -OBX|9|TX|62324-9^Post-discharge provider name^LN|1|DR JOCHEN PROFIT|||N|||F|||20241023050044 -OBX|10|TX|62325-6^Post-discharge provider practice ID^LN|1|1043390461|||N|||F|||20241023050044 -OBX|11|TX|62327-2^Post-discharge provider practice address^LN|1|725 WELCH RD, RM H1524 PALO ALTO CA 94304-1601 USA|||N|||F|||20241023050044 -OBR|4|45789876^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBR|5|45789876^FormNumber||53261-4^Amino acid newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|368|µmol/L||N|||F|||20241023050044 -OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|310|µmol/L|<1000|N|||F|||20241023050044 -OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|34.6|µmol/L||N|||F|||20241023050044 -OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.06462|{Ratio}|<4.3|N|||F|||20241023050044 -OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|50.7|µmol/L|<230|N|||F|||20241023050044 -OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.16|{Ratio}|<1.35|N|||F|||20241023050044 -OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|32.5|µmol/L|<175|N|||F|||20241023050044 -OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.13|{Ratio}|<2.6|N|||F|||20241023050044 -OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|28.9|µmol/L|<680|N|||F|||20241023050044 -OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.25|µmol/L|<6.1|N|||F|||20241023050044 -OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|8.6|µmol/L|6.3-100|N|||F|||20241023050044 -OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|5|µmol/L|5-49|N|||F|||20241023050044 -OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|1.67|{Ratio}|<4.8|N|||F|||20241023050044 -OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|32|µmol/L|<800|N|||F|||20241023050044 -OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|6.41|{Ratio}||N|||F|||20241023050044 -OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|3|µmol/L|<63|N|||F|||20241023050044 -OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.09|{Ratio}|<1.9|N|||F|||20241023050044 -OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|55|µmol/L|<1500|N|||F|||20241023050044 -OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|This complex pattern of elevations require further evaluation|||A|||F|||20241023050044 -OBR|6|45789876^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 -OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241023050044 -OBR|7|45789876^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|34.9|µmol/L|6.4-125|N|||F|||20241023050044 -OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|7.84|{Ratio}|<70|N|||F|||20241023050044 -OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|28.1|µmol/L|10-80|N|||F|||20241023050044 -OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|3.53125|{Ratio}|<7.6|N|||F|||20241023050044 -OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.034|µmol/L|<0.95|N|||F|||20241023050044 -OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.038|µmol/L|<0.45|N|||F|||20241023050044 -OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|1.19|{Ratio}||N|||F|||20241023050044 -OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.155|µmol/L|<0.65|N|||F|||20241023050044 -OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.032|µmol/L|<0.65|N|||F|||20241023050044 -OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.030|µmol/L|<0.45|N|||F|||20241023050044 -OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.070|µmol/L|<2|N|||F|||20241023050044 -OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.05|µmol/L||N|||F|||20241023050044 -OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.270|µmol/L|<1.2|N|||F|||20241023050044 -OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.084|µmol/L|<0.9|N|||F|||20241023050044 -OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.75|{Ratio}||N|||F|||20241023050044 -OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.02|µmol/L||N|||F|||20241023050044 -OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.009|µmol/L|<0.2|N|||F|||20241023050044 -OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|2.87|µmol/L|<12|N|||F|||20241023050044 -OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.236|µmol/L|<1.4|N|||F|||20241023050044 -OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.022|µmol/L|<0.1|N|||F|||20241023050044 -OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00767|{Ratio}|<0.07|N|||F|||20241023050044 -OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|0.987|µmol/L|<3.5|N|||F|||20241023050044 -OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.59|µmol/L|<7|N|||F|||20241023050044 -OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.20|µmol/L||N|||F|||20241023050044 -OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.014|µmol/L|<0.1|N|||F|||20241023050044 -OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.034|µmol/L|<0.1|N|||F|||20241023050044 -OBR|8|45789876^FormNumber||57085-3^Organic acid newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|1.9|µmol/L|<7.9|N|||F|||20241023050044 -OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.07|{Ratio}|<0.42|N|||F|||20241023050044 -OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.113|µmol/L|<0.48|N|||F|||20241023050044 -OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.161|µmol/L|<1.7|N|||F|||20241023050044 -OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.111|µmol/L|<0.95|N|||F|||20241023050044 -OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.05842|{Ratio}|<0.38|N|||F|||20241023050044 -OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.006|µmol/L|<0.5|N|||F|||20241023050044 -OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.140|µmol/L|<1.15|N|||F|||20241023050044 -OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.091|µmol/L|<0.38|N|||F|||20241023050044 -OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.80531|{Ratio}|>0.1|N|||F|||20241023050044 -OBR|9|45789876^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|27.50|ng/mL|<69|N|||F|||20241023050044 -OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 -OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241023050044 -OBR|10|45789876^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00029.9|nmol/L|<190|N|||F|||20241023050044 -OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 -OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044 -OBR|11|45789876^FormNumber||54090-6^Thyroid newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|NM|29575-8^Thyrotropin^LN|1|6.90|mIU/L|<29|N|||F|||20241023050044 -OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 -OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044 -OBR|12|45789876^FormNumber||54079-9^Galactosemia newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|226.51|enzyme units|>50|N|||F|||20241023050044 -OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 -OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044 -OBR|13|45789876^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241023050044 -OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241023050044 -OBR|14|45789876^FormNumber||57087-9^Biotinidase newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|28.87|ERU|>10|N|||F|||20241023050044 -OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 -OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044 -OBR|15|45789876^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|198|copies/µL|>18|N|||F|||20241023050044 -OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 -OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044 -OBR|16|45789876^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|7.91|µmol/L/h|>=1.62|N|||F|||20241023050044 -OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 -OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241023050044 -OBR|17|45789876^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|7.78|µmol/L/h|>=0.79|N|||F|||20241023050044 -OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 -OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044 -OBR|18|45789876^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241023050044 -OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 -OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241023050044 -OBR|19|45789876^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.94|µmol/L/h|>=2.95|N|||F|||20241023050044 -OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 -OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044 -OBR|20|45789876^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 -OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241023050044 -OBR|21|45789876^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.00|µmol/L|<=3|N|||F|||20241023050044 -OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|707.37|µmol/L||N|||F|||20241023050044 -OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|1.41||<=6|N|||F|||20241023050044 -OBR|22|45789876^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241023050044 -OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241023050044 -OBR|23|45789876^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.246|µmol/L|<0.47|N|||F|||20241023050044 diff --git a/examples/Test/tempStorage/004_CA_ORU_R01_leading_zeroes.hl7 b/examples/Test/Automated/004_CA_ORU_R01_leading_zeroes.hl7 similarity index 100% rename from examples/Test/tempStorage/004_CA_ORU_R01_leading_zeroes.hl7 rename to examples/Test/Automated/004_CA_ORU_R01_leading_zeroes.hl7 diff --git a/examples/Test/Automated/004_ORU_R01_golden_copy_input_in_range.hl7 b/examples/Test/Automated/004_ORU_R01_golden_copy_input_in_range.hl7 deleted file mode 100644 index 8b4b6f202..000000000 --- a/examples/Test/Automated/004_ORU_R01_golden_copy_input_in_range.hl7 +++ /dev/null @@ -1,142 +0,0 @@ -MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241030050154||ORU^R01^ORU_R01|004|N|2.5.1 -PID|1||335441864^^^104638912487&NPI^MR||*****PII REMOVED****** -NK1|1|*****PII REMOVED****** -ORC|RE|356672001^FormNumber||629813494^HospOrdNumber||||||||1093050858^SILVA^RICHARD^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|200 W ARBOR DR^^SAN DIEGO^CA^92103-1911 -OBR|1|356672001^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBR|2|356672001^FormNumber||57128-1^Newborn Screening Report summary panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241030050154 -OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241030050154 -OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA12428-1^All screening is in range for the conditions tested^LN|||N|||F|||20241030050154 -OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241030050154 -OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241030050154 -OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \\\2130 E Illinois Avenue, FRESNO, CA 93701\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (858) 966-8708. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241030050154 -OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241030050154 -OBR|3|356672001^FormNumber||57717-1^Newborn screen card data panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241030050154 -OBX|2|NM|8339-4^Birthweight^LN|1|3464|grams||N|||F|||20241030050154 -OBX|3|TM|57715-5^Time of birth^LN|1|0444|||N|||F|||20241030050154 -OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241030050154 -OBX|5|NM|73806-2^Newborn age in hours^LN|1|19|hour(s)||N|||F|||20241030050154 -OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241030050154 -OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241030050154 -OBX|8|TX|^^^99717-5^Accession Number^L|1|292-04-123/21-2024-32|||N|||F|||20241030050154 -OBX|9|TX|62324-9^Post-discharge provider name^LN|1|DIANE BEDROSIAN|||N|||F|||20241030050154 -OBX|10|TX|62325-6^Post-discharge provider practice ID^LN|1|1447323951|||N|||F|||20241030050154 -OBX|11|TX|62327-2^Post-discharge provider practice address^LN|1|200 W ARBOR DR SAN DIEGO CA 92103-1911 USA|||N|||F|||20241030050154 -OBR|4|356672001^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBR|5|356672001^FormNumber||53261-4^Amino acid newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|536|µmol/L||N|||F|||20241030050154 -OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|559|µmol/L|<1000|N|||F|||20241030050154 -OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|123|µmol/L||N|||F|||20241030050154 -OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|2.14286|{Ratio}|<4.3|N|||F|||20241030050154 -OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|113|µmol/L|<230|N|||F|||20241030050154 -OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.20|{Ratio}|<1.35|N|||F|||20241030050154 -OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|57.4|µmol/L|<175|N|||F|||20241030050154 -OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.05|{Ratio}|<2.6|N|||F|||20241030050154 -OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|54.8|µmol/L|<680|N|||F|||20241030050154 -OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.20|µmol/L|<6.1|N|||F|||20241030050154 -OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|22.8|µmol/L|6.3-100|N|||F|||20241030050154 -OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|10|µmol/L|5-49|N|||F|||20241030050154 -OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|1.52|{Ratio}|<4.8|N|||F|||20241030050154 -OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|84|µmol/L|<800|N|||F|||20241030050154 -OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|8.40|{Ratio}||N|||F|||20241030050154 -OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|7|µmol/L|<63|N|||F|||20241030050154 -OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.08|{Ratio}|<1.9|N|||F|||20241030050154 -OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|154|µmol/L|<1500|N|||F|||20241030050154 -OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241030050154 -OBR|6|356672001^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 -OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241030050154 -OBR|7|356672001^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|24.4|µmol/L|6.4-125|N|||F|||20241030050154 -OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|4.32|{Ratio}|<70|N|||F|||20241030050154 -OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|27.3|µmol/L|10-80|N|||F|||20241030050154 -OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|2.73000|{Ratio}|<7.6|N|||F|||20241030050154 -OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.067|µmol/L|<0.95|N|||F|||20241030050154 -OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.076|µmol/L|<0.45|N|||F|||20241030050154 -OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.76|{Ratio}||N|||F|||20241030050154 -OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.103|µmol/L|<0.65|N|||F|||20241030050154 -OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.100|µmol/L|<0.65|N|||F|||20241030050154 -OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.035|µmol/L|<0.45|N|||F|||20241030050154 -OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.132|µmol/L|<2|N|||F|||20241030050154 -OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.17|µmol/L||N|||F|||20241030050154 -OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.264|µmol/L|<1.2|N|||F|||20241030050154 -OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.189|µmol/L|<0.9|N|||F|||20241030050154 -OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.13|{Ratio}||N|||F|||20241030050154 -OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.03|µmol/L||N|||F|||20241030050154 -OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.021|µmol/L|<0.2|N|||F|||20241030050154 -OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|3.88|µmol/L|<12|N|||F|||20241030050154 -OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.371|µmol/L|<1.4|N|||F|||20241030050154 -OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.030|µmol/L|<0.1|N|||F|||20241030050154 -OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00773|{Ratio}|<0.07|N|||F|||20241030050154 -OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|1.11|µmol/L|<3.5|N|||F|||20241030050154 -OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.76|µmol/L|<7|N|||F|||20241030050154 -OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.15|µmol/L||N|||F|||20241030050154 -OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.015|µmol/L|<0.1|N|||F|||20241030050154 -OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.032|µmol/L|<0.1|N|||F|||20241030050154 -OBR|8|356672001^FormNumber||57085-3^Organic acid newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|2.3|µmol/L|<7.9|N|||F|||20241030050154 -OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.09|{Ratio}|<0.42|N|||F|||20241030050154 -OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.273|µmol/L|<0.48|N|||F|||20241030050154 -OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.315|µmol/L|<1.7|N|||F|||20241030050154 -OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.117|µmol/L|<0.95|N|||F|||20241030050154 -OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.05087|{Ratio}|<0.38|N|||F|||20241030050154 -OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.009|µmol/L|<0.5|N|||F|||20241030050154 -OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.217|µmol/L|<1.15|N|||F|||20241030050154 -OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.183|µmol/L|<0.38|N|||F|||20241030050154 -OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.67033|{Ratio}|>0.1|N|||F|||20241030050154 -OBR|9|356672001^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|27.20|ng/mL|<69|N|||F|||20241030050154 -OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 -OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241030050154 -OBR|10|356672001^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00015.2|nmol/L|<85|N|||F|||20241030050154 -OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 -OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154 -OBR|11|356672001^FormNumber||54090-6^Thyroid newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|NM|29575-8^Thyrotropin^LN|1|15.40|mIU/L|<29|N|||F|||20241030050154 -OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 -OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154 -OBR|12|356672001^FormNumber||54079-9^Galactosemia newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|273.54|enzyme units|>50|N|||F|||20241030050154 -OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 -OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154 -OBR|13|356672001^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241030050154 -OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241030050154 -OBR|14|356672001^FormNumber||57087-9^Biotinidase newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|73.00|ERU|>10|N|||F|||20241030050154 -OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 -OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154 -OBR|15|356672001^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|120|copies/µL|>18|N|||F|||20241030050154 -OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 -OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154 -OBR|16|356672001^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|11.43|µmol/L/h|>=1.54|N|||F|||20241030050154 -OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 -OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241030050154 -OBR|17|356672001^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|9.33|µmol/L/h|>=0.86|N|||F|||20241030050154 -OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 -OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154 -OBR|18|356672001^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241030050154 -OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 -OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241030050154 -OBR|19|356672001^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|22.31|µmol/L/h|>=2.84|N|||F|||20241030050154 -OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 -OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154 -OBR|20|356672001^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 -OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241030050154 -OBR|21|356672001^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.22|µmol/L|<=3|N|||F|||20241030050154 -OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|411.55|µmol/L||N|||F|||20241030050154 -OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|2.95||<=6|N|||F|||20241030050154 -OBR|22|356672001^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241030050154 -OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241030050154 -OBR|23|356672001^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.138|µmol/L|<0.47|N|||F|||20241030050154 diff --git a/examples/Test/tempStorage/005_CA_ORU_R01_no_leading_zeroes.hl7 b/examples/Test/Automated/005_CA_ORU_R01_no_leading_zeroes.hl7 similarity index 100% rename from examples/Test/tempStorage/005_CA_ORU_R01_no_leading_zeroes.hl7 rename to examples/Test/Automated/005_CA_ORU_R01_no_leading_zeroes.hl7 diff --git a/examples/Test/Automated/005_ORU_R01_golden_copy_input_out_of_range.hl7 b/examples/Test/Automated/005_ORU_R01_golden_copy_input_out_of_range.hl7 deleted file mode 100644 index 6f949201c..000000000 --- a/examples/Test/Automated/005_ORU_R01_golden_copy_input_out_of_range.hl7 +++ /dev/null @@ -1,142 +0,0 @@ -MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9414049^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241018050017||ORU^R01^ORU_R01|005|N|2.5.1 -PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** -NK1|1|*****PII REMOVED****** -ORC|RE|753234567^FormNumber||56155532^HospOrdNumber||||||||^SCALA^MELISSA|||||||||STANFORD/LUCILE PACKARD CHILDREN'S HOSPI^^^^^^^^^R777|725 WELCH RD, RM H1524^^PALO ALTO^CA^94304-1601 -OBR|1|753234567^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBR|1|753234567^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBR|2|753234567^FormNumber||57128-1^Newborn Screening Report summary panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241018050017 -OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241018050017 -OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241018050017 -OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA16207-5^Hemoglobinopathies^LN|||N|||F|||20241018050017 -OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241018050017 -OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - ALLIED LABORATORY \\\453 RAVENDALE DR, STE B, MOUNTAIN VIEW, CA 94043-5221\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Hb: An immediate referral to a CCS Hematology Center or a pediatric hematologist familiar with alpha thalassemia and Hb H disease is strongly recommended for this infant. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Stanford University Medical Center at (650) 724-8120. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241018050017 -OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241018050017 -OBR|3|753234567^FormNumber||57717-1^Newborn screen card data panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241018050017 -OBX|2|NM|8339-4^Birthweight^LN|1|2658|grams||N|||F|||20241018050017 -OBX|3|TM|57715-5^Time of birth^LN|1|0027|||N|||F|||20241018050017 -OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241018050017 -OBX|5|NM|73806-2^Newborn age in hours^LN|1|28|hour(s)||N|||F|||20241018050017 -OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241018050017 -OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241018050017 -OBX|8|TX|^^^99717-5^Accession Number^L|1|272-95-009/21-2024-12|||N|||F|||20241018050017 -OBX|9|TX|62324-9^Post-discharge provider name^LN|1|MELISSA SCALA|||N|||F|||20241018050017 -OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|725 WELCH RD, RM H1524 PALO ALTO CA 94304-1601 USA|||N|||F|||20241018050017 -OBR|4|753234567^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBR|5|753234567^FormNumber||53261-4^Amino acid newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|926|µmol/L||N|||F|||20241018050017 -OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|588|µmol/L|<1000|N|||F|||20241018050017 -OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|79.4|µmol/L||N|||F|||20241018050017 -OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.29739|{Ratio}|<4.3|N|||F|||20241018050017 -OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|99.2|µmol/L|<230|N|||F|||20241018050017 -OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.17|{Ratio}|<1.35|N|||F|||20241018050017 -OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|61.2|µmol/L|<175|N|||F|||20241018050017 -OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.77|{Ratio}|<2.6|N|||F|||20241018050017 -OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|34.7|µmol/L|<680|N|||F|||20241018050017 -OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.33|µmol/L|<6.1|N|||F|||20241018050017 -OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|20.4|µmol/L|6.3-100|N|||F|||20241018050017 -OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|10|µmol/L|5-49|N|||F|||20241018050017 -OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|2.79|{Ratio}|<4.8|N|||F|||20241018050017 -OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|43|µmol/L|<800|N|||F|||20241018050017 -OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|4.44|{Ratio}||N|||F|||20241018050017 -OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|3|µmol/L|<63|N|||F|||20241018050017 -OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.08|{Ratio}|<1.9|N|||F|||20241018050017 -OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|187|µmol/L|<1500|N|||F|||20241018050017 -OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050017 -OBR|6|753234567^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 -OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050017 -OBR|7|753234567^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|39.6|µmol/L|6.4-125|N|||F|||20241018050017 -OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|5.35|{Ratio}|<70|N|||F|||20241018050017 -OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|34.7|µmol/L|10-80|N|||F|||20241018050017 -OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|3.27536|{Ratio}|<7.6|N|||F|||20241018050017 -OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.100|µmol/L|<0.95|N|||F|||20241018050017 -OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.075|µmol/L|<0.45|N|||F|||20241018050017 -OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|1.09|{Ratio}||N|||F|||20241018050017 -OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.163|µmol/L|<0.65|N|||F|||20241018050017 -OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.069|µmol/L|<0.65|N|||F|||20241018050017 -OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.057|µmol/L|<0.45|N|||F|||20241018050017 -OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.118|µmol/L|<2|N|||F|||20241018050017 -OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.06|µmol/L||N|||F|||20241018050017 -OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.394|µmol/L|<1.2|N|||F|||20241018050017 -OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.130|µmol/L|<0.9|N|||F|||20241018050017 -OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|2.32|{Ratio}||N|||F|||20241018050017 -OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.03|µmol/L||N|||F|||20241018050017 -OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.026|µmol/L|<0.2|N|||F|||20241018050017 -OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5.52|µmol/L|<12|N|||F|||20241018050017 -OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.245|µmol/L|<1.4|N|||F|||20241018050017 -OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.042|µmol/L|<0.1|N|||F|||20241018050017 -OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00761|{Ratio}|<0.07|N|||F|||20241018050017 -OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2.13|µmol/L|<3.5|N|||F|||20241018050017 -OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.89|µmol/L|<7|N|||F|||20241018050017 -OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.29|µmol/L||N|||F|||20241018050017 -OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.032|µmol/L|<0.1|N|||F|||20241018050017 -OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.047|µmol/L|<0.1|N|||F|||20241018050017 -OBR|8|753234567^FormNumber||57085-3^Organic acid newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|4.2|µmol/L|<7.9|N|||F|||20241018050017 -OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.12|{Ratio}|<0.42|N|||F|||20241018050017 -OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.226|µmol/L|<0.48|N|||F|||20241018050017 -OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.424|µmol/L|<1.7|N|||F|||20241018050017 -OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.247|µmol/L|<0.95|N|||F|||20241018050017 -OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.05881|{Ratio}|<0.38|N|||F|||20241018050017 -OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.008|µmol/L|<0.5|N|||F|||20241018050017 -OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.287|µmol/L|<1.15|N|||F|||20241018050017 -OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.179|µmol/L|<0.38|N|||F|||20241018050017 -OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.79204|{Ratio}|>0.1|N|||F|||20241018050017 -OBR|9|753234567^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|18.50|ng/mL|<69|N|||F|||20241018050017 -OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 -OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050017 -OBR|10|753234567^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00013.8|nmol/L|<85|N|||F|||20241018050017 -OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 -OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017 -OBR|11|753234567^FormNumber||54090-6^Thyroid newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|NM|29575-8^Thyrotropin^LN|1|2.40|mIU/L|<29|N|||F|||20241018050017 -OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 -OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017 -OBR|12|753234567^FormNumber||54079-9^Galactosemia newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|293.00|enzyme units|>50|N|||F|||20241018050017 -OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 -OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017 -OBR|13|753234567^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA + Barts||||||F|||20241018050017 -OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|The presence of Hb Barts at a high percentage is consistent with Hb H disease, a clinically significant hemoglobin disorder.||||||F|||20241018050017 -OBR|14|753234567^FormNumber||57087-9^Biotinidase newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|43.76|ERU|>10|N|||F|||20241018050017 -OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 -OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017 -OBR|15|753234567^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|99|copies/µL|>18|N|||F|||20241018050017 -OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 -OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017 -OBR|16|753234567^FormNumber||63414-7^Pompe Disease newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|7.09|µmol/L/h|>=1.67|N|||F|||20241018050017 -OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 -OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241018050017 -OBR|17|753234567^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|8.33|µmol/L/h|>=0.86|N|||F|||20241018050017 -OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 -OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017 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\\\\.br\\\\\\\\.br\\\\Methods and Limitations:\\\\.br\\\\\\\\.br\\\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. 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\\\\.br\\\\\\\\.br\\\\Methods and Limitations:\\\\.br\\\\\\\\.br\\\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. 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\\\\.br\\\\\\\\.br\\\\Methods and Limitations:\\\\.br\\\\\\\\.br\\\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. 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Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. 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Staff at Stanford University Medical Center at (650) 724-8120. \\\\.br\\\\\\\\.br\\\\Methods and Limitations:\\\\.br\\\\\\\\.br\\\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. 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b/examples/Test/GoldenCopy/Input/001_ORU_R01_golden_copy_input_acylc_1.hl7 @@ -1,143 +1,143 @@ -MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9413816^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241015050654||ORU^R01^ORU_R01|001|N|2.5.1\r +MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9413816^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241015050654||ORU^R01^ORU_R01|001|N|2.5.1 PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** NK1|1|*****PII REMOVED****** -ORC|RE|673678765^FormNumber||M17965^HospOrdNumber||||||||1477542173^BROOKS^STEWART^^^^^^^NPI|||||||||CEDARS-SINAI MEDICAL CENTER^^^^^^^^^R150|8700 BEVERLY BLVD^^W HOLLYWOOD^CA^90048-1804\r -OBR|1|673678765^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410011420|||||||||||||||20241015050654|||F\r -OBR|2|673678765^FormNumber||57128-1^Newborn Screening Report summary panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241015050654\r -OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241015050654\r -OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241015050654\r -OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241015050654\r -OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241015050654\r -OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - LONG BEACH MEMORIAL MEDICAL CENTER \\R\\3747 LONG BEACH BLVD, LONG BEACH, CA 90807-3309\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Acyl Carnitine Panel: An immediate referral to a CCS Metabolic Center is strongly recommended. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at UCLA Medical Center at (310) 826-4458. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241015050654\r -OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241015050654\r -OBR|3|673678765^FormNumber||57717-1^Newborn screen card data panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241015050654\r -OBX|2|NM|8339-4^Birthweight^LN|1|4020|grams||N|||F|||20241015050654\r -OBX|3|TM|57715-5^Time of birth^LN|1|1416|||N|||F|||20241015050654\r -OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241015050654\r -OBX|5|NM|73806-2^Newborn age in hours^LN|1|24|hour(s)||N|||F|||20241015050654\r -OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241015050654\r -OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241015050654\r -OBX|8|CE|67704-7^Feeding types^LN|2|LA16915-3^Lactose formula^LN|||N|||F|||20241015050654\r -OBX|9|TX|^^^99717-5^Accession Number^L|1|277-86-190/21-2024-32|||N|||F|||20241015050654\r -OBX|10|TX|62324-9^Post-discharge provider name^LN|1|STEWART BROOKS|||N|||F|||20241015050654\r -OBX|11|TX|62325-6^Post-discharge provider practice ID^LN|1|1477542173|||N|||F|||20241015050654\r -OBX|12|TX|62327-2^Post-discharge provider practice address^LN|1|8700 BEVERLY BLVD W HOLLYWOOD CA 90048-1804 USA|||N|||F|||20241015050654\r -OBR|4|673678765^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410011420|||||||||||||||20241015050654|||F\r -OBR|5|673678765^FormNumber||53261-4^Amino acid newborn screen panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|387|µmol/L||N|||F|||20241015050654\r -OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|381|µmol/L|<1000|N|||F|||20241015050654\r -OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|92.6|µmol/L||N|||F|||20241015050654\r -OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.88595|{Ratio}|<4.3|N|||F|||20241015050654\r -OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|86.8|µmol/L|<230|N|||F|||20241015050654\r -OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.23|{Ratio}|<1.35|N|||F|||20241015050654\r -OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|49.1|µmol/L|<175|N|||F|||20241015050654\r -OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.09|{Ratio}|<2.6|N|||F|||20241015050654\r -OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|45.1|µmol/L|<680|N|||F|||20241015050654\r -OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.24|µmol/L|<6.1|N|||F|||20241015050654\r -OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|16.8|µmol/L|6.3-100|N|||F|||20241015050654\r -OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|20|µmol/L|5-49|N|||F|||20241015050654\r -OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3.22|{Ratio}|<4.8|N|||F|||20241015050654\r -OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|74|µmol/L|<800|N|||F|||20241015050654\r -OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|3.76|{Ratio}||N|||F|||20241015050654\r -OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|6|µmol/L|<63|N|||F|||20241015050654\r -OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.08|{Ratio}|<1.9|N|||F|||20241015050654\r -OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|118|µmol/L|<1500|N|||F|||20241015050654\r -OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015050654\r -OBR|6|673678765^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA11884-6^Indeterminate^LN|||A|||F|||20241015050654\r -OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|This pattern of elevations is consistent with SCADD, IBCDD|||A|||F|||20241015050654\r -OBR|7|673678765^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|34.3|µmol/L|6.4-125|N|||F|||20241015050654\r -OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|5.93|{Ratio}|<70|N|||F|||20241015050654\r -OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|33.2|µmol/L|10-80|N|||F|||20241015050654\r -OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|1.29565|{Ratio}|<7.6|N|||F|||20241015050654\r -OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.136|µmol/L|<0.95|N|||F|||20241015050654\r -OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.150|µmol/L|<0.45|N|||F|||20241015050654\r -OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.65|{Ratio}||N|||F|||20241015050654\r -OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.221|µmol/L|<0.65|N|||F|||20241015050654\r -OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.230|µmol/L|<0.65|N|||F|||20241015050654\r -OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.088|µmol/L|<0.45|N|||F|||20241015050654\r -OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.232|µmol/L|<2|N|||F|||20241015050654\r -OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.20|µmol/L||N|||F|||20241015050654\r -OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.342|µmol/L|<1.2|N|||F|||20241015050654\r -OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.206|µmol/L|<0.9|N|||F|||20241015050654\r -OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.02|{Ratio}||N|||F|||20241015050654\r -OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.03|µmol/L||N|||F|||20241015050654\r -OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.029|µmol/L|<0.2|N|||F|||20241015050654\r -OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|4.14|µmol/L|<12|N|||F|||20241015050654\r -OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.341|µmol/L|<1.4|N|||F|||20241015050654\r -OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.049|µmol/L|<0.1|N|||F|||20241015050654\r -OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01184|{Ratio}|<0.07|N|||F|||20241015050654\r -OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|1.07|µmol/L|<3.5|N|||F|||20241015050654\r -OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.65|µmol/L|<7|N|||F|||20241015050654\r -OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.23|µmol/L||N|||F|||20241015050654\r -OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.022|µmol/L|<0.1|N|||F|||20241015050654\r -OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.053|µmol/L|<0.1|N|||F|||20241015050654\r -OBR|8|673678765^FormNumber||57085-3^Organic acid newborn screen panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|2.3|µmol/L|<7.9|N|||F|||20241015050654\r -OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.07|{Ratio}|<0.42|N|||F|||20241015050654\r -OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.298|µmol/L|<0.48|N|||F|||20241015050654\r -OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|1.73|µmol/L|<1.7|H|||F|||20241015050654\r -OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.139|µmol/L|<0.95|N|||F|||20241015050654\r -OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.06043|{Ratio}|<0.38|N|||F|||20241015050654\r -OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.011|µmol/L|<0.5|N|||F|||20241015050654\r -OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.306|µmol/L|<1.15|N|||F|||20241015050654\r -OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.238|µmol/L|<0.38|N|||F|||20241015050654\r -OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.79866|{Ratio}|>0.1|N|||F|||20241015050654\r -OBR|9|673678765^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|18.10|ng/mL|<69|N|||F|||20241015050654\r -OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r -OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015050654\r -OBR|10|673678765^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00010.8|nmol/L|<85|N|||F|||20241015050654\r -OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r -OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654\r -OBR|11|673678765^FormNumber||54090-6^Thyroid newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|NM|29575-8^Thyrotropin^LN|1|4.00|mIU/L|<29|N|||F|||20241015050654\r -OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r -OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654\r -OBR|12|673678765^FormNumber||54079-9^Galactosemia newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|267.94|enzyme units|>50|N|||F|||20241015050654\r -OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r -OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654\r -OBR|13|673678765^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241015050654\r -OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241015050654\r -OBR|14|673678765^FormNumber||57087-9^Biotinidase newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|44.16|ERU|>10|N|||F|||20241015050654\r -OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r -OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654\r -OBR|15|673678765^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|84|copies/µL|>18|N|||F|||20241015050654\r -OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r -OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654\r -OBR|16|673678765^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|6.97|µmol/L/h|>=1.51|N|||F|||20241015050654\r -OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r -OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241015050654\r -OBR|17|673678765^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|10.38|µmol/L/h|>=0.77|N|||F|||20241015050654\r -OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r -OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654\r -OBR|18|673678765^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241015050654\r -OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r -OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241015050654\r -OBR|19|673678765^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|27.61|µmol/L/h|>=2.75|N|||F|||20241015050654\r -OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r -OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654\r -OBR|20|673678765^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r -OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241015050654\r -OBR|21|673678765^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.04|µmol/L|<=3|N|||F|||20241015050654\r -OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|391.37|µmol/L||N|||F|||20241015050654\r -OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|2.66||<=6|N|||F|||20241015050654\r -OBR|22|673678765^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241015050654\r -OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241015050654\r -OBR|23|673678765^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410011420|||||||||||||||20241015050654|||F\r -OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.246|µmol/L|<0.47|N|||F|||20241015050654\r +ORC|RE|673678765^FormNumber||M17965^HospOrdNumber||||||||1477542173^BROOKS^STEWART^^^^^^^NPI|||||||||CEDARS-SINAI MEDICAL CENTER^^^^^^^^^R150|8700 BEVERLY BLVD^^W HOLLYWOOD^CA^90048-1804 +OBR|1|673678765^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410011420|||||||||||||||20241015050654|||F +OBR|2|673678765^FormNumber||57128-1^Newborn Screening Report summary panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241015050654 +OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241015050654 +OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241015050654 +OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241015050654 +OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241015050654 +OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - LONG BEACH MEMORIAL MEDICAL CENTER \\\3747 LONG BEACH BLVD, LONG BEACH, CA 90807-3309\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Acyl Carnitine Panel: An immediate referral to a CCS Metabolic Center is strongly recommended. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at UCLA Medical Center at (310) 826-4458. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241015050654 +OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241015050654 +OBR|3|673678765^FormNumber||57717-1^Newborn screen card data panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241015050654 +OBX|2|NM|8339-4^Birthweight^LN|1|4020|grams||N|||F|||20241015050654 +OBX|3|TM|57715-5^Time of birth^LN|1|1416|||N|||F|||20241015050654 +OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241015050654 +OBX|5|NM|73806-2^Newborn age in hours^LN|1|24|hour(s)||N|||F|||20241015050654 +OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241015050654 +OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241015050654 +OBX|8|CE|67704-7^Feeding types^LN|2|LA16915-3^Lactose formula^LN|||N|||F|||20241015050654 +OBX|9|TX|^^^99717-5^Accession Number^L|1|277-86-190/21-2024-32|||N|||F|||20241015050654 +OBX|10|TX|62324-9^Post-discharge provider name^LN|1|STEWART BROOKS|||N|||F|||20241015050654 +OBX|11|TX|62325-6^Post-discharge provider practice ID^LN|1|1477542173|||N|||F|||20241015050654 +OBX|12|TX|62327-2^Post-discharge provider practice address^LN|1|8700 BEVERLY BLVD W HOLLYWOOD CA 90048-1804 USA|||N|||F|||20241015050654 +OBR|4|673678765^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410011420|||||||||||||||20241015050654|||F +OBR|5|673678765^FormNumber||53261-4^Amino acid newborn screen panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|387|µmol/L||N|||F|||20241015050654 +OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|381|µmol/L|<1000|N|||F|||20241015050654 +OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|92.6|µmol/L||N|||F|||20241015050654 +OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.88595|{Ratio}|<4.3|N|||F|||20241015050654 +OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|86.8|µmol/L|<230|N|||F|||20241015050654 +OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.23|{Ratio}|<1.35|N|||F|||20241015050654 +OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|49.1|µmol/L|<175|N|||F|||20241015050654 +OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.09|{Ratio}|<2.6|N|||F|||20241015050654 +OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|45.1|µmol/L|<680|N|||F|||20241015050654 +OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.24|µmol/L|<6.1|N|||F|||20241015050654 +OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|16.8|µmol/L|6.3-100|N|||F|||20241015050654 +OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|20|µmol/L|5-49|N|||F|||20241015050654 +OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3.22|{Ratio}|<4.8|N|||F|||20241015050654 +OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|74|µmol/L|<800|N|||F|||20241015050654 +OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|3.76|{Ratio}||N|||F|||20241015050654 +OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|6|µmol/L|<63|N|||F|||20241015050654 +OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.08|{Ratio}|<1.9|N|||F|||20241015050654 +OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|118|µmol/L|<1500|N|||F|||20241015050654 +OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015050654 +OBR|6|673678765^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA11884-6^Indeterminate^LN|||A|||F|||20241015050654 +OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|This pattern of elevations is consistent with SCADD, IBCDD|||A|||F|||20241015050654 +OBR|7|673678765^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|34.3|µmol/L|6.4-125|N|||F|||20241015050654 +OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|5.93|{Ratio}|<70|N|||F|||20241015050654 +OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|33.2|µmol/L|10-80|N|||F|||20241015050654 +OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|1.29565|{Ratio}|<7.6|N|||F|||20241015050654 +OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.136|µmol/L|<0.95|N|||F|||20241015050654 +OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.150|µmol/L|<0.45|N|||F|||20241015050654 +OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.65|{Ratio}||N|||F|||20241015050654 +OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.221|µmol/L|<0.65|N|||F|||20241015050654 +OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.230|µmol/L|<0.65|N|||F|||20241015050654 +OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.088|µmol/L|<0.45|N|||F|||20241015050654 +OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.232|µmol/L|<2|N|||F|||20241015050654 +OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.20|µmol/L||N|||F|||20241015050654 +OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.342|µmol/L|<1.2|N|||F|||20241015050654 +OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.206|µmol/L|<0.9|N|||F|||20241015050654 +OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.02|{Ratio}||N|||F|||20241015050654 +OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.03|µmol/L||N|||F|||20241015050654 +OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.029|µmol/L|<0.2|N|||F|||20241015050654 +OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|4.14|µmol/L|<12|N|||F|||20241015050654 +OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.341|µmol/L|<1.4|N|||F|||20241015050654 +OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.049|µmol/L|<0.1|N|||F|||20241015050654 +OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01184|{Ratio}|<0.07|N|||F|||20241015050654 +OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|1.07|µmol/L|<3.5|N|||F|||20241015050654 +OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.65|µmol/L|<7|N|||F|||20241015050654 +OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.23|µmol/L||N|||F|||20241015050654 +OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.022|µmol/L|<0.1|N|||F|||20241015050654 +OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.053|µmol/L|<0.1|N|||F|||20241015050654 +OBR|8|673678765^FormNumber||57085-3^Organic acid newborn screen panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|2.3|µmol/L|<7.9|N|||F|||20241015050654 +OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.07|{Ratio}|<0.42|N|||F|||20241015050654 +OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.298|µmol/L|<0.48|N|||F|||20241015050654 +OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|1.73|µmol/L|<1.7|H|||F|||20241015050654 +OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.139|µmol/L|<0.95|N|||F|||20241015050654 +OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.06043|{Ratio}|<0.38|N|||F|||20241015050654 +OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.011|µmol/L|<0.5|N|||F|||20241015050654 +OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.306|µmol/L|<1.15|N|||F|||20241015050654 +OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.238|µmol/L|<0.38|N|||F|||20241015050654 +OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.79866|{Ratio}|>0.1|N|||F|||20241015050654 +OBR|9|673678765^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|18.10|ng/mL|<69|N|||F|||20241015050654 +OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 +OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015050654 +OBR|10|673678765^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00010.8|nmol/L|<85|N|||F|||20241015050654 +OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 +OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654 +OBR|11|673678765^FormNumber||54090-6^Thyroid newborn screening panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|NM|29575-8^Thyrotropin^LN|1|4.00|mIU/L|<29|N|||F|||20241015050654 +OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 +OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654 +OBR|12|673678765^FormNumber||54079-9^Galactosemia newborn screening panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|267.94|enzyme units|>50|N|||F|||20241015050654 +OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 +OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654 +OBR|13|673678765^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241015050654 +OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241015050654 +OBR|14|673678765^FormNumber||57087-9^Biotinidase newborn screening panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|44.16|ERU|>10|N|||F|||20241015050654 +OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 +OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654 +OBR|15|673678765^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|84|copies/µL|>18|N|||F|||20241015050654 +OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 +OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654 +OBR|16|673678765^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|6.97|µmol/L/h|>=1.51|N|||F|||20241015050654 +OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 +OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241015050654 +OBR|17|673678765^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|10.38|µmol/L/h|>=0.77|N|||F|||20241015050654 +OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 +OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654 +OBR|18|673678765^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241015050654 +OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 +OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241015050654 +OBR|19|673678765^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|27.61|µmol/L/h|>=2.75|N|||F|||20241015050654 +OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 +OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654 +OBR|20|673678765^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410011420|||||||||||||||20241015050654|||F +OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 +OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241015050654 +OBR|21|673678765^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410011420|||||||||||||||20241015050654|||F +OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.04|µmol/L|<=3|N|||F|||20241015050654 +OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|391.37|µmol/L||N|||F|||20241015050654 +OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|2.66||<=6|N|||F|||20241015050654 +OBR|22|673678765^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410011420|||||||||||||||20241015050654|||F +OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241015050654 +OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241015050654 +OBR|23|673678765^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410011420|||||||||||||||20241015050654|||F +OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.246|µmol/L|<0.47|N|||F|||20241015050654 diff --git a/examples/Test/GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 b/examples/Test/GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 index 680a34bad..eb4377c51 100644 --- a/examples/Test/GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 +++ b/examples/Test/GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 @@ -1,142 +1,142 @@ -MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9413816^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241018050234||ORU^R01^ORU_R01|002|N|2.5.1\r +MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9413816^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241018050234||ORU^R01^ORU_R01|002|N|2.5.1 PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** NK1|1|*****PII REMOVED****** -ORC|RE|12345667867^FormNumber||S30500^HospOrdNumber||||||||1194257170^MAHMOOD^SARAH^^^^^^^NPI|||||||||CEDARS-SINAI MEDICAL CENTER^^^^^^^^^R150|8700 BEVERLY BLVD^^W HOLLYWOOD^CA^90048-1804\r -OBR|1|12345667867^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410061300|||||||||||||||20241018050234|||F\r -OBR|2|12345667867^FormNumber||57128-1^Newborn Screening Report summary panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241018050234\r -OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241018050234\r -OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241018050234\r -OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241018050234\r -OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241018050234\r -OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - LONG BEACH MEMORIAL MEDICAL CENTER \\R\\3747 LONG BEACH BLVD, LONG BEACH, CA 90807-3309\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Acyl Carnitine Panel: An immediate referral to a CCS Metabolic Center is strongly recommended. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at UCLA Medical Center at (310) 826-4458. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241018050234\r -OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241018050234\r -OBR|3|12345667867^FormNumber||57717-1^Newborn screen card data panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241018050234\r -OBX|2|NM|8339-4^Birthweight^LN|1|3135|grams||N|||F|||20241018050234\r -OBX|3|TM|57715-5^Time of birth^LN|1|1235|||N|||F|||20241018050234\r -OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241018050234\r -OBX|5|NM|73806-2^Newborn age in hours^LN|1|24|hour(s)||N|||F|||20241018050234\r -OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241018050234\r -OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241018050234\r -OBX|8|TX|^^^99717-5^Accession Number^L|1|282-18-014/21-2024-32|||N|||F|||20241018050234\r -OBX|9|TX|62324-9^Post-discharge provider name^LN|1|SARAH MAHMOOD|||N|||F|||20241018050234\r -OBX|10|TX|62325-6^Post-discharge provider practice ID^LN|1|1194257170|||N|||F|||20241018050234\r -OBX|11|TX|62327-2^Post-discharge provider practice address^LN|1|8700 BEVERLY BLVD W HOLLYWOOD CA 90048-1804 USA|||N|||F|||20241018050234\r -OBR|4|12345667867^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410061300|||||||||||||||20241018050234|||F\r -OBR|5|12345667867^FormNumber||53261-4^Amino acid newborn screen panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|611|µmol/L||N|||F|||20241018050234\r -OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|585|µmol/L|<1000|N|||F|||20241018050234\r -OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|90.9|µmol/L||N|||F|||20241018050234\r -OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.74808|{Ratio}|<4.3|N|||F|||20241018050234\r -OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|86.9|µmol/L|<230|N|||F|||20241018050234\r -OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.15|{Ratio}|<1.35|N|||F|||20241018050234\r -OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|52.0|µmol/L|<175|N|||F|||20241018050234\r -OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241018050234\r -OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|69.0|µmol/L|<680|N|||F|||20241018050234\r -OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.23|µmol/L|<6.1|N|||F|||20241018050234\r -OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|22.5|µmol/L|6.3-100|N|||F|||20241018050234\r -OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|14|µmol/L|5-49|N|||F|||20241018050234\r -OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|2.28|{Ratio}|<4.8|N|||F|||20241018050234\r -OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|68|µmol/L|<800|N|||F|||20241018050234\r -OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|4.93|{Ratio}||N|||F|||20241018050234\r -OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|6|µmol/L|<63|N|||F|||20241018050234\r -OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.09|{Ratio}|<1.9|N|||F|||20241018050234\r -OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|192|µmol/L|<1500|N|||F|||20241018050234\r -OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050234\r -OBR|6|12345667867^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA11884-6^Indeterminate^LN|||A|||F|||20241018050234\r -OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|This pattern of elevations is consistent with SCADD, IBCDD|||A|||F|||20241018050234\r -OBR|7|12345667867^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|26.6|µmol/L|6.4-125|N|||F|||20241018050234\r -OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|3.27|{Ratio}|<70|N|||F|||20241018050234\r -OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|29.2|µmol/L|10-80|N|||F|||20241018050234\r -OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|2.13913|{Ratio}|<7.6|N|||F|||20241018050234\r -OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.088|µmol/L|<0.95|N|||F|||20241018050234\r -OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.084|µmol/L|<0.45|N|||F|||20241018050234\r -OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.73|{Ratio}||N|||F|||20241018050234\r -OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.172|µmol/L|<0.65|N|||F|||20241018050234\r -OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.115|µmol/L|<0.65|N|||F|||20241018050234\r -OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.050|µmol/L|<0.45|N|||F|||20241018050234\r -OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.127|µmol/L|<2|N|||F|||20241018050234\r -OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.12|µmol/L||N|||F|||20241018050234\r -OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.333|µmol/L|<1.2|N|||F|||20241018050234\r -OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.132|µmol/L|<0.9|N|||F|||20241018050234\r -OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.13|{Ratio}||N|||F|||20241018050234\r -OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.02|µmol/L||N|||F|||20241018050234\r -OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.026|µmol/L|<0.2|N|||F|||20241018050234\r -OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|6.19|µmol/L|<12|N|||F|||20241018050234\r -OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.445|µmol/L|<1.4|N|||F|||20241018050234\r -OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.045|µmol/L|<0.1|N|||F|||20241018050234\r -OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00727|{Ratio}|<0.07|N|||F|||20241018050234\r -OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|1.53|µmol/L|<3.5|N|||F|||20241018050234\r -OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.96|µmol/L|<7|N|||F|||20241018050234\r -OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.21|µmol/L||N|||F|||20241018050234\r -OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.017|µmol/L|<0.1|N|||F|||20241018050234\r -OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.036|µmol/L|<0.1|N|||F|||20241018050234\r -OBR|8|12345667867^FormNumber||57085-3^Organic acid newborn screen panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|2.5|µmol/L|<7.9|N|||F|||20241018050234\r -OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.09|{Ratio}|<0.42|N|||F|||20241018050234\r -OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.246|µmol/L|<0.48|N|||F|||20241018050234\r -OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|1.72|µmol/L|<1.7|H|||F|||20241018050234\r -OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.115|µmol/L|<0.95|N|||F|||20241018050234\r -OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.04600|{Ratio}|<0.38|N|||F|||20241018050234\r -OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.008|µmol/L|<0.5|N|||F|||20241018050234\r -OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.232|µmol/L|<1.15|N|||F|||20241018050234\r -OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.180|µmol/L|<0.38|N|||F|||20241018050234\r -OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.73171|{Ratio}|>0.1|N|||F|||20241018050234\r -OBR|9|12345667867^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|21.20|ng/mL|<69|N|||F|||20241018050234\r -OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r -OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050234\r -OBR|10|12345667867^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00015.6|nmol/L|<85|N|||F|||20241018050234\r -OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r -OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234\r -OBR|11|12345667867^FormNumber||54090-6^Thyroid newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|NM|29575-8^Thyrotropin^LN|1|9.50|mIU/L|<29|N|||F|||20241018050234\r -OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r -OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234\r -OBR|12|12345667867^FormNumber||54079-9^Galactosemia newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|262.95|enzyme units|>50|N|||F|||20241018050234\r -OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r -OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234\r -OBR|13|12345667867^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241018050234\r -OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241018050234\r -OBR|14|12345667867^FormNumber||57087-9^Biotinidase newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|49.77|ERU|>10|N|||F|||20241018050234\r -OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r -OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234\r -OBR|15|12345667867^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|197|copies/µL|>18|N|||F|||20241018050234\r -OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r -OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234\r -OBR|16|12345667867^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.29|µmol/L/h|>=1.47|N|||F|||20241018050234\r -OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r -OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241018050234\r -OBR|17|12345667867^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|13.01|µmol/L/h|>=0.82|N|||F|||20241018050234\r -OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r -OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234\r -OBR|18|12345667867^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241018050234\r -OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r -OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241018050234\r -OBR|19|12345667867^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|27.84|µmol/L/h|>=2.79|N|||F|||20241018050234\r -OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r -OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234\r -OBR|20|12345667867^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r -OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241018050234\r -OBR|21|12345667867^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|0.97|µmol/L|<=3|N|||F|||20241018050234\r -OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|496.63|µmol/L||N|||F|||20241018050234\r -OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|1.95||<=6|N|||F|||20241018050234\r -OBR|22|12345667867^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241018050234\r -OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241018050234\r -OBR|23|12345667867^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410061300|||||||||||||||20241018050234|||F\r -OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.349|µmol/L|<0.47|N|||F|||20241018050234\r +ORC|RE|12345667867^FormNumber||S30500^HospOrdNumber||||||||1194257170^MAHMOOD^SARAH^^^^^^^NPI|||||||||CEDARS-SINAI MEDICAL CENTER^^^^^^^^^R150|8700 BEVERLY BLVD^^W HOLLYWOOD^CA^90048-1804 +OBR|1|12345667867^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410061300|||||||||||||||20241018050234|||F +OBR|2|12345667867^FormNumber||57128-1^Newborn Screening Report summary panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241018050234 +OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241018050234 +OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241018050234 +OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241018050234 +OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241018050234 +OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - LONG BEACH MEMORIAL MEDICAL CENTER \\\3747 LONG BEACH BLVD, LONG BEACH, CA 90807-3309\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Acyl Carnitine Panel: An immediate referral to a CCS Metabolic Center is strongly recommended. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at UCLA Medical Center at (310) 826-4458. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241018050234 +OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241018050234 +OBR|3|12345667867^FormNumber||57717-1^Newborn screen card data panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241018050234 +OBX|2|NM|8339-4^Birthweight^LN|1|3135|grams||N|||F|||20241018050234 +OBX|3|TM|57715-5^Time of birth^LN|1|1235|||N|||F|||20241018050234 +OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241018050234 +OBX|5|NM|73806-2^Newborn age in hours^LN|1|24|hour(s)||N|||F|||20241018050234 +OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241018050234 +OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241018050234 +OBX|8|TX|^^^99717-5^Accession Number^L|1|282-18-014/21-2024-32|||N|||F|||20241018050234 +OBX|9|TX|62324-9^Post-discharge provider name^LN|1|SARAH MAHMOOD|||N|||F|||20241018050234 +OBX|10|TX|62325-6^Post-discharge provider practice ID^LN|1|1194257170|||N|||F|||20241018050234 +OBX|11|TX|62327-2^Post-discharge provider practice address^LN|1|8700 BEVERLY BLVD W HOLLYWOOD CA 90048-1804 USA|||N|||F|||20241018050234 +OBR|4|12345667867^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410061300|||||||||||||||20241018050234|||F +OBR|5|12345667867^FormNumber||53261-4^Amino acid newborn screen panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|611|µmol/L||N|||F|||20241018050234 +OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|585|µmol/L|<1000|N|||F|||20241018050234 +OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|90.9|µmol/L||N|||F|||20241018050234 +OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.74808|{Ratio}|<4.3|N|||F|||20241018050234 +OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|86.9|µmol/L|<230|N|||F|||20241018050234 +OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.15|{Ratio}|<1.35|N|||F|||20241018050234 +OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|52.0|µmol/L|<175|N|||F|||20241018050234 +OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241018050234 +OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|69.0|µmol/L|<680|N|||F|||20241018050234 +OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.23|µmol/L|<6.1|N|||F|||20241018050234 +OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|22.5|µmol/L|6.3-100|N|||F|||20241018050234 +OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|14|µmol/L|5-49|N|||F|||20241018050234 +OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|2.28|{Ratio}|<4.8|N|||F|||20241018050234 +OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|68|µmol/L|<800|N|||F|||20241018050234 +OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|4.93|{Ratio}||N|||F|||20241018050234 +OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|6|µmol/L|<63|N|||F|||20241018050234 +OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.09|{Ratio}|<1.9|N|||F|||20241018050234 +OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|192|µmol/L|<1500|N|||F|||20241018050234 +OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050234 +OBR|6|12345667867^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA11884-6^Indeterminate^LN|||A|||F|||20241018050234 +OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|This pattern of elevations is consistent with SCADD, IBCDD|||A|||F|||20241018050234 +OBR|7|12345667867^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|26.6|µmol/L|6.4-125|N|||F|||20241018050234 +OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|3.27|{Ratio}|<70|N|||F|||20241018050234 +OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|29.2|µmol/L|10-80|N|||F|||20241018050234 +OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|2.13913|{Ratio}|<7.6|N|||F|||20241018050234 +OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.088|µmol/L|<0.95|N|||F|||20241018050234 +OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.084|µmol/L|<0.45|N|||F|||20241018050234 +OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.73|{Ratio}||N|||F|||20241018050234 +OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.172|µmol/L|<0.65|N|||F|||20241018050234 +OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.115|µmol/L|<0.65|N|||F|||20241018050234 +OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.050|µmol/L|<0.45|N|||F|||20241018050234 +OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.127|µmol/L|<2|N|||F|||20241018050234 +OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.12|µmol/L||N|||F|||20241018050234 +OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.333|µmol/L|<1.2|N|||F|||20241018050234 +OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.132|µmol/L|<0.9|N|||F|||20241018050234 +OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.13|{Ratio}||N|||F|||20241018050234 +OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.02|µmol/L||N|||F|||20241018050234 +OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.026|µmol/L|<0.2|N|||F|||20241018050234 +OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|6.19|µmol/L|<12|N|||F|||20241018050234 +OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.445|µmol/L|<1.4|N|||F|||20241018050234 +OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.045|µmol/L|<0.1|N|||F|||20241018050234 +OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00727|{Ratio}|<0.07|N|||F|||20241018050234 +OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|1.53|µmol/L|<3.5|N|||F|||20241018050234 +OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.96|µmol/L|<7|N|||F|||20241018050234 +OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.21|µmol/L||N|||F|||20241018050234 +OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.017|µmol/L|<0.1|N|||F|||20241018050234 +OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.036|µmol/L|<0.1|N|||F|||20241018050234 +OBR|8|12345667867^FormNumber||57085-3^Organic acid newborn screen panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|2.5|µmol/L|<7.9|N|||F|||20241018050234 +OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.09|{Ratio}|<0.42|N|||F|||20241018050234 +OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.246|µmol/L|<0.48|N|||F|||20241018050234 +OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|1.72|µmol/L|<1.7|H|||F|||20241018050234 +OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.115|µmol/L|<0.95|N|||F|||20241018050234 +OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.04600|{Ratio}|<0.38|N|||F|||20241018050234 +OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.008|µmol/L|<0.5|N|||F|||20241018050234 +OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.232|µmol/L|<1.15|N|||F|||20241018050234 +OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.180|µmol/L|<0.38|N|||F|||20241018050234 +OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.73171|{Ratio}|>0.1|N|||F|||20241018050234 +OBR|9|12345667867^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|21.20|ng/mL|<69|N|||F|||20241018050234 +OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 +OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050234 +OBR|10|12345667867^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00015.6|nmol/L|<85|N|||F|||20241018050234 +OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 +OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234 +OBR|11|12345667867^FormNumber||54090-6^Thyroid newborn screening panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|NM|29575-8^Thyrotropin^LN|1|9.50|mIU/L|<29|N|||F|||20241018050234 +OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 +OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234 +OBR|12|12345667867^FormNumber||54079-9^Galactosemia newborn screening panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|262.95|enzyme units|>50|N|||F|||20241018050234 +OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 +OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234 +OBR|13|12345667867^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241018050234 +OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241018050234 +OBR|14|12345667867^FormNumber||57087-9^Biotinidase newborn screening panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|49.77|ERU|>10|N|||F|||20241018050234 +OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 +OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234 +OBR|15|12345667867^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|197|copies/µL|>18|N|||F|||20241018050234 +OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 +OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234 +OBR|16|12345667867^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.29|µmol/L/h|>=1.47|N|||F|||20241018050234 +OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 +OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241018050234 +OBR|17|12345667867^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|13.01|µmol/L/h|>=0.82|N|||F|||20241018050234 +OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 +OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234 +OBR|18|12345667867^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241018050234 +OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 +OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241018050234 +OBR|19|12345667867^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|27.84|µmol/L/h|>=2.79|N|||F|||20241018050234 +OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 +OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234 +OBR|20|12345667867^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410061300|||||||||||||||20241018050234|||F +OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 +OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241018050234 +OBR|21|12345667867^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410061300|||||||||||||||20241018050234|||F +OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|0.97|µmol/L|<=3|N|||F|||20241018050234 +OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|496.63|µmol/L||N|||F|||20241018050234 +OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|1.95||<=6|N|||F|||20241018050234 +OBR|22|12345667867^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410061300|||||||||||||||20241018050234|||F +OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241018050234 +OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241018050234 +OBR|23|12345667867^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410061300|||||||||||||||20241018050234|||F +OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.349|µmol/L|<0.47|N|||F|||20241018050234 diff --git a/examples/Test/GoldenCopy/Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 b/examples/Test/GoldenCopy/Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 index a1ed92d13..d5fb3472e 100644 --- a/examples/Test/GoldenCopy/Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 +++ b/examples/Test/GoldenCopy/Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 @@ -1,142 +1,142 @@ -MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9414049^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241023050044||ORU^R01^ORU_R01|003|N|2.5.1\r +MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9414049^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241023050044||ORU^R01^ORU_R01|003|N|2.5.1 PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** NK1|1|*****PII REMOVED****** -ORC|RE|45789876^FormNumber||56352742^HospOrdNumber||||||||1043390461^PROFIT^DR JOCHEN^^^^^^^NPI|||||||||STANFORD/LUCILE PACKARD CHILDREN'S HOSPI^^^^^^^^^R777|725 WELCH RD, RM H1524^^PALO ALTO^CA^94304-1601\r -OBR|1|45789876^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBR|2|45789876^FormNumber||57128-1^Newborn Screening Report summary panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241023050044\r -OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241023050044\r -OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241023050044\r -OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241023050044\r -OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241023050044\r -OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - ALLIED LABORATORY \\R\\453 RAVENDALE DR, STE B, MOUNTAIN VIEW, CA 94043-5221\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Amino Acid Panel: An immediate referral to a CCS Metabolic Center is strongly recommended. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Stanford University Medical Center at (650) 724-8120. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241023050044\r -OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241023050044\r -OBR|3|45789876^FormNumber||57717-1^Newborn screen card data panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241023050044\r -OBX|2|NM|8339-4^Birthweight^LN|1|2230|grams||N|||F|||20241023050044\r -OBX|3|TM|57715-5^Time of birth^LN|1|1358|||N|||F|||20241023050044\r -OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12412-5^Twins^LN|||N|||F|||20241023050044\r -OBX|5|NM|73806-2^Newborn age in hours^LN|1|26|hour(s)||N|||F|||20241023050044\r -OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241023050044\r -OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241023050044\r -OBX|8|TX|^^^99717-5^Accession Number^L|1|282-38-261/21-2024-12|||N|||F|||20241023050044\r -OBX|9|TX|62324-9^Post-discharge provider name^LN|1|DR JOCHEN PROFIT|||N|||F|||20241023050044\r -OBX|10|TX|62325-6^Post-discharge provider practice ID^LN|1|1043390461|||N|||F|||20241023050044\r -OBX|11|TX|62327-2^Post-discharge provider practice address^LN|1|725 WELCH RD, RM H1524 PALO ALTO CA 94304-1601 USA|||N|||F|||20241023050044\r -OBR|4|45789876^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBR|5|45789876^FormNumber||53261-4^Amino acid newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|368|µmol/L||N|||F|||20241023050044\r -OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|310|µmol/L|<1000|N|||F|||20241023050044\r -OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|34.6|µmol/L||N|||F|||20241023050044\r -OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.06462|{Ratio}|<4.3|N|||F|||20241023050044\r -OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|50.7|µmol/L|<230|N|||F|||20241023050044\r -OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.16|{Ratio}|<1.35|N|||F|||20241023050044\r -OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|32.5|µmol/L|<175|N|||F|||20241023050044\r -OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.13|{Ratio}|<2.6|N|||F|||20241023050044\r -OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|28.9|µmol/L|<680|N|||F|||20241023050044\r -OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.25|µmol/L|<6.1|N|||F|||20241023050044\r -OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|8.6|µmol/L|6.3-100|N|||F|||20241023050044\r -OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|5|µmol/L|5-49|N|||F|||20241023050044\r -OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|1.67|{Ratio}|<4.8|N|||F|||20241023050044\r -OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|32|µmol/L|<800|N|||F|||20241023050044\r -OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|6.41|{Ratio}||N|||F|||20241023050044\r -OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|3|µmol/L|<63|N|||F|||20241023050044\r -OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.09|{Ratio}|<1.9|N|||F|||20241023050044\r -OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|55|µmol/L|<1500|N|||F|||20241023050044\r -OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|This complex pattern of elevations require further evaluation|||A|||F|||20241023050044\r -OBR|6|45789876^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r -OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241023050044\r -OBR|7|45789876^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|34.9|µmol/L|6.4-125|N|||F|||20241023050044\r -OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|7.84|{Ratio}|<70|N|||F|||20241023050044\r -OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|28.1|µmol/L|10-80|N|||F|||20241023050044\r -OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|3.53125|{Ratio}|<7.6|N|||F|||20241023050044\r -OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.034|µmol/L|<0.95|N|||F|||20241023050044\r -OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.038|µmol/L|<0.45|N|||F|||20241023050044\r -OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|1.19|{Ratio}||N|||F|||20241023050044\r -OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.155|µmol/L|<0.65|N|||F|||20241023050044\r -OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.032|µmol/L|<0.65|N|||F|||20241023050044\r -OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.030|µmol/L|<0.45|N|||F|||20241023050044\r -OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.070|µmol/L|<2|N|||F|||20241023050044\r -OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.05|µmol/L||N|||F|||20241023050044\r -OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.270|µmol/L|<1.2|N|||F|||20241023050044\r -OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.084|µmol/L|<0.9|N|||F|||20241023050044\r -OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.75|{Ratio}||N|||F|||20241023050044\r -OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.02|µmol/L||N|||F|||20241023050044\r -OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.009|µmol/L|<0.2|N|||F|||20241023050044\r -OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|2.87|µmol/L|<12|N|||F|||20241023050044\r -OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.236|µmol/L|<1.4|N|||F|||20241023050044\r -OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.022|µmol/L|<0.1|N|||F|||20241023050044\r -OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00767|{Ratio}|<0.07|N|||F|||20241023050044\r -OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|0.987|µmol/L|<3.5|N|||F|||20241023050044\r -OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.59|µmol/L|<7|N|||F|||20241023050044\r -OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.20|µmol/L||N|||F|||20241023050044\r -OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.014|µmol/L|<0.1|N|||F|||20241023050044\r -OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.034|µmol/L|<0.1|N|||F|||20241023050044\r -OBR|8|45789876^FormNumber||57085-3^Organic acid newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|1.9|µmol/L|<7.9|N|||F|||20241023050044\r -OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.07|{Ratio}|<0.42|N|||F|||20241023050044\r -OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.113|µmol/L|<0.48|N|||F|||20241023050044\r -OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.161|µmol/L|<1.7|N|||F|||20241023050044\r -OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.111|µmol/L|<0.95|N|||F|||20241023050044\r -OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.05842|{Ratio}|<0.38|N|||F|||20241023050044\r -OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.006|µmol/L|<0.5|N|||F|||20241023050044\r -OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.140|µmol/L|<1.15|N|||F|||20241023050044\r -OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.091|µmol/L|<0.38|N|||F|||20241023050044\r -OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.80531|{Ratio}|>0.1|N|||F|||20241023050044\r -OBR|9|45789876^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|27.50|ng/mL|<69|N|||F|||20241023050044\r -OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r -OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241023050044\r -OBR|10|45789876^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00029.9|nmol/L|<190|N|||F|||20241023050044\r -OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r -OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044\r -OBR|11|45789876^FormNumber||54090-6^Thyroid newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|NM|29575-8^Thyrotropin^LN|1|6.90|mIU/L|<29|N|||F|||20241023050044\r -OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r -OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044\r -OBR|12|45789876^FormNumber||54079-9^Galactosemia newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|226.51|enzyme units|>50|N|||F|||20241023050044\r -OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r -OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044\r -OBR|13|45789876^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241023050044\r -OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241023050044\r -OBR|14|45789876^FormNumber||57087-9^Biotinidase newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|28.87|ERU|>10|N|||F|||20241023050044\r -OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r -OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044\r -OBR|15|45789876^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|198|copies/µL|>18|N|||F|||20241023050044\r -OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r -OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044\r -OBR|16|45789876^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|7.91|µmol/L/h|>=1.62|N|||F|||20241023050044\r -OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r -OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241023050044\r -OBR|17|45789876^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|7.78|µmol/L/h|>=0.79|N|||F|||20241023050044\r -OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r -OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044\r -OBR|18|45789876^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241023050044\r -OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r -OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241023050044\r -OBR|19|45789876^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.94|µmol/L/h|>=2.95|N|||F|||20241023050044\r -OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r -OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044\r -OBR|20|45789876^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r -OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241023050044\r -OBR|21|45789876^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.00|µmol/L|<=3|N|||F|||20241023050044\r -OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|707.37|µmol/L||N|||F|||20241023050044\r -OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|1.41||<=6|N|||F|||20241023050044\r -OBR|22|45789876^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241023050044\r -OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241023050044\r -OBR|23|45789876^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F\r -OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.246|µmol/L|<0.47|N|||F|||20241023050044\r +ORC|RE|45789876^FormNumber||56352742^HospOrdNumber||||||||1043390461^PROFIT^DR JOCHEN^^^^^^^NPI|||||||||STANFORD/LUCILE PACKARD CHILDREN'S HOSPI^^^^^^^^^R777|725 WELCH RD, RM H1524^^PALO ALTO^CA^94304-1601 +OBR|1|45789876^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBR|2|45789876^FormNumber||57128-1^Newborn Screening Report summary panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241023050044 +OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241023050044 +OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241023050044 +OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241023050044 +OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241023050044 +OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - ALLIED LABORATORY \\\453 RAVENDALE DR, STE B, MOUNTAIN VIEW, CA 94043-5221\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Amino Acid Panel: An immediate referral to a CCS Metabolic Center is strongly recommended. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Stanford University Medical Center at (650) 724-8120. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241023050044 +OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241023050044 +OBR|3|45789876^FormNumber||57717-1^Newborn screen card data panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241023050044 +OBX|2|NM|8339-4^Birthweight^LN|1|2230|grams||N|||F|||20241023050044 +OBX|3|TM|57715-5^Time of birth^LN|1|1358|||N|||F|||20241023050044 +OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12412-5^Twins^LN|||N|||F|||20241023050044 +OBX|5|NM|73806-2^Newborn age in hours^LN|1|26|hour(s)||N|||F|||20241023050044 +OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241023050044 +OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241023050044 +OBX|8|TX|^^^99717-5^Accession Number^L|1|282-38-261/21-2024-12|||N|||F|||20241023050044 +OBX|9|TX|62324-9^Post-discharge provider name^LN|1|DR JOCHEN PROFIT|||N|||F|||20241023050044 +OBX|10|TX|62325-6^Post-discharge provider practice ID^LN|1|1043390461|||N|||F|||20241023050044 +OBX|11|TX|62327-2^Post-discharge provider practice address^LN|1|725 WELCH RD, RM H1524 PALO ALTO CA 94304-1601 USA|||N|||F|||20241023050044 +OBR|4|45789876^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBR|5|45789876^FormNumber||53261-4^Amino acid newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|368|µmol/L||N|||F|||20241023050044 +OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|310|µmol/L|<1000|N|||F|||20241023050044 +OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|34.6|µmol/L||N|||F|||20241023050044 +OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.06462|{Ratio}|<4.3|N|||F|||20241023050044 +OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|50.7|µmol/L|<230|N|||F|||20241023050044 +OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.16|{Ratio}|<1.35|N|||F|||20241023050044 +OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|32.5|µmol/L|<175|N|||F|||20241023050044 +OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.13|{Ratio}|<2.6|N|||F|||20241023050044 +OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|28.9|µmol/L|<680|N|||F|||20241023050044 +OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.25|µmol/L|<6.1|N|||F|||20241023050044 +OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|8.6|µmol/L|6.3-100|N|||F|||20241023050044 +OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|5|µmol/L|5-49|N|||F|||20241023050044 +OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|1.67|{Ratio}|<4.8|N|||F|||20241023050044 +OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|32|µmol/L|<800|N|||F|||20241023050044 +OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|6.41|{Ratio}||N|||F|||20241023050044 +OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|3|µmol/L|<63|N|||F|||20241023050044 +OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.09|{Ratio}|<1.9|N|||F|||20241023050044 +OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|55|µmol/L|<1500|N|||F|||20241023050044 +OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|This complex pattern of elevations require further evaluation|||A|||F|||20241023050044 +OBR|6|45789876^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 +OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241023050044 +OBR|7|45789876^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|34.9|µmol/L|6.4-125|N|||F|||20241023050044 +OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|7.84|{Ratio}|<70|N|||F|||20241023050044 +OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|28.1|µmol/L|10-80|N|||F|||20241023050044 +OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|3.53125|{Ratio}|<7.6|N|||F|||20241023050044 +OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.034|µmol/L|<0.95|N|||F|||20241023050044 +OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.038|µmol/L|<0.45|N|||F|||20241023050044 +OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|1.19|{Ratio}||N|||F|||20241023050044 +OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.155|µmol/L|<0.65|N|||F|||20241023050044 +OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.032|µmol/L|<0.65|N|||F|||20241023050044 +OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.030|µmol/L|<0.45|N|||F|||20241023050044 +OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.070|µmol/L|<2|N|||F|||20241023050044 +OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.05|µmol/L||N|||F|||20241023050044 +OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.270|µmol/L|<1.2|N|||F|||20241023050044 +OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.084|µmol/L|<0.9|N|||F|||20241023050044 +OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.75|{Ratio}||N|||F|||20241023050044 +OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.02|µmol/L||N|||F|||20241023050044 +OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.009|µmol/L|<0.2|N|||F|||20241023050044 +OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|2.87|µmol/L|<12|N|||F|||20241023050044 +OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.236|µmol/L|<1.4|N|||F|||20241023050044 +OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.022|µmol/L|<0.1|N|||F|||20241023050044 +OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00767|{Ratio}|<0.07|N|||F|||20241023050044 +OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|0.987|µmol/L|<3.5|N|||F|||20241023050044 +OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.59|µmol/L|<7|N|||F|||20241023050044 +OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.20|µmol/L||N|||F|||20241023050044 +OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.014|µmol/L|<0.1|N|||F|||20241023050044 +OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.034|µmol/L|<0.1|N|||F|||20241023050044 +OBR|8|45789876^FormNumber||57085-3^Organic acid newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|1.9|µmol/L|<7.9|N|||F|||20241023050044 +OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.07|{Ratio}|<0.42|N|||F|||20241023050044 +OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.113|µmol/L|<0.48|N|||F|||20241023050044 +OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.161|µmol/L|<1.7|N|||F|||20241023050044 +OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.111|µmol/L|<0.95|N|||F|||20241023050044 +OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.05842|{Ratio}|<0.38|N|||F|||20241023050044 +OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.006|µmol/L|<0.5|N|||F|||20241023050044 +OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.140|µmol/L|<1.15|N|||F|||20241023050044 +OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.091|µmol/L|<0.38|N|||F|||20241023050044 +OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.80531|{Ratio}|>0.1|N|||F|||20241023050044 +OBR|9|45789876^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|27.50|ng/mL|<69|N|||F|||20241023050044 +OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 +OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241023050044 +OBR|10|45789876^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00029.9|nmol/L|<190|N|||F|||20241023050044 +OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 +OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044 +OBR|11|45789876^FormNumber||54090-6^Thyroid newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|NM|29575-8^Thyrotropin^LN|1|6.90|mIU/L|<29|N|||F|||20241023050044 +OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 +OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044 +OBR|12|45789876^FormNumber||54079-9^Galactosemia newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|226.51|enzyme units|>50|N|||F|||20241023050044 +OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 +OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044 +OBR|13|45789876^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241023050044 +OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241023050044 +OBR|14|45789876^FormNumber||57087-9^Biotinidase newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|28.87|ERU|>10|N|||F|||20241023050044 +OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 +OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044 +OBR|15|45789876^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|198|copies/µL|>18|N|||F|||20241023050044 +OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 +OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044 +OBR|16|45789876^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|7.91|µmol/L/h|>=1.62|N|||F|||20241023050044 +OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 +OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241023050044 +OBR|17|45789876^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|7.78|µmol/L/h|>=0.79|N|||F|||20241023050044 +OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 +OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044 +OBR|18|45789876^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241023050044 +OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 +OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241023050044 +OBR|19|45789876^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.94|µmol/L/h|>=2.95|N|||F|||20241023050044 +OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 +OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044 +OBR|20|45789876^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 +OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241023050044 +OBR|21|45789876^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.00|µmol/L|<=3|N|||F|||20241023050044 +OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|707.37|µmol/L||N|||F|||20241023050044 +OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|1.41||<=6|N|||F|||20241023050044 +OBR|22|45789876^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241023050044 +OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241023050044 +OBR|23|45789876^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F +OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.246|µmol/L|<0.47|N|||F|||20241023050044 diff --git a/examples/Test/GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 b/examples/Test/GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 index 8e0752090..8b4b6f202 100644 --- a/examples/Test/GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 +++ b/examples/Test/GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 @@ -1,142 +1,142 @@ -MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241030050154||ORU^R01^ORU_R01|004|N|2.5.1\r +MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241030050154||ORU^R01^ORU_R01|004|N|2.5.1 PID|1||335441864^^^104638912487&NPI^MR||*****PII REMOVED****** NK1|1|*****PII REMOVED****** -ORC|RE|356672001^FormNumber||629813494^HospOrdNumber||||||||1093050858^SILVA^RICHARD^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|200 W ARBOR DR^^SAN DIEGO^CA^92103-1911\r -OBR|1|356672001^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBR|2|356672001^FormNumber||57128-1^Newborn Screening Report summary panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241030050154\r -OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241030050154\r -OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA12428-1^All screening is in range for the conditions tested^LN|||N|||F|||20241030050154\r -OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241030050154\r -OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241030050154\r -OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \\R\\2130 E Illinois Avenue, FRESNO, CA 93701\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (858) 966-8708. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241030050154\r -OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241030050154\r -OBR|3|356672001^FormNumber||57717-1^Newborn screen card data panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241030050154\r -OBX|2|NM|8339-4^Birthweight^LN|1|3464|grams||N|||F|||20241030050154\r -OBX|3|TM|57715-5^Time of birth^LN|1|0444|||N|||F|||20241030050154\r -OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241030050154\r -OBX|5|NM|73806-2^Newborn age in hours^LN|1|19|hour(s)||N|||F|||20241030050154\r -OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241030050154\r -OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241030050154\r -OBX|8|TX|^^^99717-5^Accession Number^L|1|292-04-123/21-2024-32|||N|||F|||20241030050154\r -OBX|9|TX|62324-9^Post-discharge provider name^LN|1|DIANE BEDROSIAN|||N|||F|||20241030050154\r -OBX|10|TX|62325-6^Post-discharge provider practice ID^LN|1|1447323951|||N|||F|||20241030050154\r -OBX|11|TX|62327-2^Post-discharge provider practice address^LN|1|200 W ARBOR DR SAN DIEGO CA 92103-1911 USA|||N|||F|||20241030050154\r -OBR|4|356672001^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBR|5|356672001^FormNumber||53261-4^Amino acid newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|536|µmol/L||N|||F|||20241030050154\r -OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|559|µmol/L|<1000|N|||F|||20241030050154\r -OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|123|µmol/L||N|||F|||20241030050154\r -OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|2.14286|{Ratio}|<4.3|N|||F|||20241030050154\r -OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|113|µmol/L|<230|N|||F|||20241030050154\r -OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.20|{Ratio}|<1.35|N|||F|||20241030050154\r -OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|57.4|µmol/L|<175|N|||F|||20241030050154\r -OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.05|{Ratio}|<2.6|N|||F|||20241030050154\r -OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|54.8|µmol/L|<680|N|||F|||20241030050154\r -OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.20|µmol/L|<6.1|N|||F|||20241030050154\r -OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|22.8|µmol/L|6.3-100|N|||F|||20241030050154\r -OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|10|µmol/L|5-49|N|||F|||20241030050154\r -OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|1.52|{Ratio}|<4.8|N|||F|||20241030050154\r -OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|84|µmol/L|<800|N|||F|||20241030050154\r -OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|8.40|{Ratio}||N|||F|||20241030050154\r -OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|7|µmol/L|<63|N|||F|||20241030050154\r -OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.08|{Ratio}|<1.9|N|||F|||20241030050154\r -OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|154|µmol/L|<1500|N|||F|||20241030050154\r -OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241030050154\r -OBR|6|356672001^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r -OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241030050154\r -OBR|7|356672001^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|24.4|µmol/L|6.4-125|N|||F|||20241030050154\r -OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|4.32|{Ratio}|<70|N|||F|||20241030050154\r -OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|27.3|µmol/L|10-80|N|||F|||20241030050154\r -OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|2.73000|{Ratio}|<7.6|N|||F|||20241030050154\r -OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.067|µmol/L|<0.95|N|||F|||20241030050154\r -OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.076|µmol/L|<0.45|N|||F|||20241030050154\r -OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.76|{Ratio}||N|||F|||20241030050154\r -OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.103|µmol/L|<0.65|N|||F|||20241030050154\r -OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.100|µmol/L|<0.65|N|||F|||20241030050154\r -OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.035|µmol/L|<0.45|N|||F|||20241030050154\r -OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.132|µmol/L|<2|N|||F|||20241030050154\r -OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.17|µmol/L||N|||F|||20241030050154\r -OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.264|µmol/L|<1.2|N|||F|||20241030050154\r -OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.189|µmol/L|<0.9|N|||F|||20241030050154\r -OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.13|{Ratio}||N|||F|||20241030050154\r -OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.03|µmol/L||N|||F|||20241030050154\r -OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.021|µmol/L|<0.2|N|||F|||20241030050154\r -OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|3.88|µmol/L|<12|N|||F|||20241030050154\r -OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.371|µmol/L|<1.4|N|||F|||20241030050154\r -OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.030|µmol/L|<0.1|N|||F|||20241030050154\r -OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00773|{Ratio}|<0.07|N|||F|||20241030050154\r -OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|1.11|µmol/L|<3.5|N|||F|||20241030050154\r -OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.76|µmol/L|<7|N|||F|||20241030050154\r -OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.15|µmol/L||N|||F|||20241030050154\r -OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.015|µmol/L|<0.1|N|||F|||20241030050154\r -OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.032|µmol/L|<0.1|N|||F|||20241030050154\r -OBR|8|356672001^FormNumber||57085-3^Organic acid newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|2.3|µmol/L|<7.9|N|||F|||20241030050154\r -OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.09|{Ratio}|<0.42|N|||F|||20241030050154\r -OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.273|µmol/L|<0.48|N|||F|||20241030050154\r -OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.315|µmol/L|<1.7|N|||F|||20241030050154\r -OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.117|µmol/L|<0.95|N|||F|||20241030050154\r -OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.05087|{Ratio}|<0.38|N|||F|||20241030050154\r -OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.009|µmol/L|<0.5|N|||F|||20241030050154\r -OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.217|µmol/L|<1.15|N|||F|||20241030050154\r -OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.183|µmol/L|<0.38|N|||F|||20241030050154\r -OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.67033|{Ratio}|>0.1|N|||F|||20241030050154\r -OBR|9|356672001^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|27.20|ng/mL|<69|N|||F|||20241030050154\r -OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r -OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241030050154\r -OBR|10|356672001^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00015.2|nmol/L|<85|N|||F|||20241030050154\r -OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r -OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154\r -OBR|11|356672001^FormNumber||54090-6^Thyroid newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|NM|29575-8^Thyrotropin^LN|1|15.40|mIU/L|<29|N|||F|||20241030050154\r -OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r -OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154\r -OBR|12|356672001^FormNumber||54079-9^Galactosemia newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|273.54|enzyme units|>50|N|||F|||20241030050154\r -OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r -OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154\r -OBR|13|356672001^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241030050154\r -OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241030050154\r -OBR|14|356672001^FormNumber||57087-9^Biotinidase newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|73.00|ERU|>10|N|||F|||20241030050154\r -OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r -OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154\r -OBR|15|356672001^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|120|copies/µL|>18|N|||F|||20241030050154\r -OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r -OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154\r -OBR|16|356672001^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|11.43|µmol/L/h|>=1.54|N|||F|||20241030050154\r -OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r -OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241030050154\r -OBR|17|356672001^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|9.33|µmol/L/h|>=0.86|N|||F|||20241030050154\r -OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r -OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154\r -OBR|18|356672001^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241030050154\r -OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r -OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241030050154\r -OBR|19|356672001^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|22.31|µmol/L/h|>=2.84|N|||F|||20241030050154\r -OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r -OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154\r -OBR|20|356672001^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r -OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241030050154\r -OBR|21|356672001^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.22|µmol/L|<=3|N|||F|||20241030050154\r -OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|411.55|µmol/L||N|||F|||20241030050154\r -OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|2.95||<=6|N|||F|||20241030050154\r -OBR|22|356672001^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241030050154\r -OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241030050154\r -OBR|23|356672001^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F\r -OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.138|µmol/L|<0.47|N|||F|||20241030050154\r +ORC|RE|356672001^FormNumber||629813494^HospOrdNumber||||||||1093050858^SILVA^RICHARD^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|200 W ARBOR DR^^SAN DIEGO^CA^92103-1911 +OBR|1|356672001^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBR|2|356672001^FormNumber||57128-1^Newborn Screening Report summary panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241030050154 +OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241030050154 +OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA12428-1^All screening is in range for the conditions tested^LN|||N|||F|||20241030050154 +OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241030050154 +OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241030050154 +OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \\\2130 E Illinois Avenue, FRESNO, CA 93701\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (858) 966-8708. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241030050154 +OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241030050154 +OBR|3|356672001^FormNumber||57717-1^Newborn screen card data panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241030050154 +OBX|2|NM|8339-4^Birthweight^LN|1|3464|grams||N|||F|||20241030050154 +OBX|3|TM|57715-5^Time of birth^LN|1|0444|||N|||F|||20241030050154 +OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241030050154 +OBX|5|NM|73806-2^Newborn age in hours^LN|1|19|hour(s)||N|||F|||20241030050154 +OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241030050154 +OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241030050154 +OBX|8|TX|^^^99717-5^Accession Number^L|1|292-04-123/21-2024-32|||N|||F|||20241030050154 +OBX|9|TX|62324-9^Post-discharge provider name^LN|1|DIANE BEDROSIAN|||N|||F|||20241030050154 +OBX|10|TX|62325-6^Post-discharge provider practice ID^LN|1|1447323951|||N|||F|||20241030050154 +OBX|11|TX|62327-2^Post-discharge provider practice address^LN|1|200 W ARBOR DR SAN DIEGO CA 92103-1911 USA|||N|||F|||20241030050154 +OBR|4|356672001^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBR|5|356672001^FormNumber||53261-4^Amino acid newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|536|µmol/L||N|||F|||20241030050154 +OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|559|µmol/L|<1000|N|||F|||20241030050154 +OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|123|µmol/L||N|||F|||20241030050154 +OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|2.14286|{Ratio}|<4.3|N|||F|||20241030050154 +OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|113|µmol/L|<230|N|||F|||20241030050154 +OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.20|{Ratio}|<1.35|N|||F|||20241030050154 +OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|57.4|µmol/L|<175|N|||F|||20241030050154 +OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.05|{Ratio}|<2.6|N|||F|||20241030050154 +OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|54.8|µmol/L|<680|N|||F|||20241030050154 +OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.20|µmol/L|<6.1|N|||F|||20241030050154 +OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|22.8|µmol/L|6.3-100|N|||F|||20241030050154 +OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|10|µmol/L|5-49|N|||F|||20241030050154 +OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|1.52|{Ratio}|<4.8|N|||F|||20241030050154 +OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|84|µmol/L|<800|N|||F|||20241030050154 +OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|8.40|{Ratio}||N|||F|||20241030050154 +OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|7|µmol/L|<63|N|||F|||20241030050154 +OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.08|{Ratio}|<1.9|N|||F|||20241030050154 +OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|154|µmol/L|<1500|N|||F|||20241030050154 +OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241030050154 +OBR|6|356672001^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 +OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241030050154 +OBR|7|356672001^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|24.4|µmol/L|6.4-125|N|||F|||20241030050154 +OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|4.32|{Ratio}|<70|N|||F|||20241030050154 +OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|27.3|µmol/L|10-80|N|||F|||20241030050154 +OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|2.73000|{Ratio}|<7.6|N|||F|||20241030050154 +OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.067|µmol/L|<0.95|N|||F|||20241030050154 +OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.076|µmol/L|<0.45|N|||F|||20241030050154 +OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.76|{Ratio}||N|||F|||20241030050154 +OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.103|µmol/L|<0.65|N|||F|||20241030050154 +OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.100|µmol/L|<0.65|N|||F|||20241030050154 +OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.035|µmol/L|<0.45|N|||F|||20241030050154 +OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.132|µmol/L|<2|N|||F|||20241030050154 +OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.17|µmol/L||N|||F|||20241030050154 +OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.264|µmol/L|<1.2|N|||F|||20241030050154 +OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.189|µmol/L|<0.9|N|||F|||20241030050154 +OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.13|{Ratio}||N|||F|||20241030050154 +OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.03|µmol/L||N|||F|||20241030050154 +OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.021|µmol/L|<0.2|N|||F|||20241030050154 +OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|3.88|µmol/L|<12|N|||F|||20241030050154 +OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.371|µmol/L|<1.4|N|||F|||20241030050154 +OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.030|µmol/L|<0.1|N|||F|||20241030050154 +OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00773|{Ratio}|<0.07|N|||F|||20241030050154 +OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|1.11|µmol/L|<3.5|N|||F|||20241030050154 +OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.76|µmol/L|<7|N|||F|||20241030050154 +OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.15|µmol/L||N|||F|||20241030050154 +OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.015|µmol/L|<0.1|N|||F|||20241030050154 +OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.032|µmol/L|<0.1|N|||F|||20241030050154 +OBR|8|356672001^FormNumber||57085-3^Organic acid newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|2.3|µmol/L|<7.9|N|||F|||20241030050154 +OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.09|{Ratio}|<0.42|N|||F|||20241030050154 +OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.273|µmol/L|<0.48|N|||F|||20241030050154 +OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.315|µmol/L|<1.7|N|||F|||20241030050154 +OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.117|µmol/L|<0.95|N|||F|||20241030050154 +OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.05087|{Ratio}|<0.38|N|||F|||20241030050154 +OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.009|µmol/L|<0.5|N|||F|||20241030050154 +OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.217|µmol/L|<1.15|N|||F|||20241030050154 +OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.183|µmol/L|<0.38|N|||F|||20241030050154 +OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.67033|{Ratio}|>0.1|N|||F|||20241030050154 +OBR|9|356672001^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|27.20|ng/mL|<69|N|||F|||20241030050154 +OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 +OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241030050154 +OBR|10|356672001^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00015.2|nmol/L|<85|N|||F|||20241030050154 +OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 +OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154 +OBR|11|356672001^FormNumber||54090-6^Thyroid newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|NM|29575-8^Thyrotropin^LN|1|15.40|mIU/L|<29|N|||F|||20241030050154 +OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 +OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154 +OBR|12|356672001^FormNumber||54079-9^Galactosemia newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|273.54|enzyme units|>50|N|||F|||20241030050154 +OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 +OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154 +OBR|13|356672001^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241030050154 +OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241030050154 +OBR|14|356672001^FormNumber||57087-9^Biotinidase newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|73.00|ERU|>10|N|||F|||20241030050154 +OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 +OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154 +OBR|15|356672001^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|120|copies/µL|>18|N|||F|||20241030050154 +OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 +OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154 +OBR|16|356672001^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|11.43|µmol/L/h|>=1.54|N|||F|||20241030050154 +OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 +OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241030050154 +OBR|17|356672001^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|9.33|µmol/L/h|>=0.86|N|||F|||20241030050154 +OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 +OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154 +OBR|18|356672001^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241030050154 +OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 +OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241030050154 +OBR|19|356672001^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|22.31|µmol/L/h|>=2.84|N|||F|||20241030050154 +OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 +OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154 +OBR|20|356672001^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 +OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241030050154 +OBR|21|356672001^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.22|µmol/L|<=3|N|||F|||20241030050154 +OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|411.55|µmol/L||N|||F|||20241030050154 +OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|2.95||<=6|N|||F|||20241030050154 +OBR|22|356672001^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241030050154 +OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241030050154 +OBR|23|356672001^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F +OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.138|µmol/L|<0.47|N|||F|||20241030050154 diff --git a/examples/Test/GoldenCopy/Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 b/examples/Test/GoldenCopy/Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 index 0d67e12e9..6f949201c 100644 --- a/examples/Test/GoldenCopy/Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 +++ b/examples/Test/GoldenCopy/Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 @@ -1,142 +1,142 @@ -MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9414049^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241018050017||ORU^R01^ORU_R01|005|N|2.5.1\r +MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9414049^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241018050017||ORU^R01^ORU_R01|005|N|2.5.1 PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** NK1|1|*****PII REMOVED****** -ORC|RE|753234567^FormNumber||56155532^HospOrdNumber||||||||^SCALA^MELISSA|||||||||STANFORD/LUCILE PACKARD CHILDREN'S HOSPI^^^^^^^^^R777|725 WELCH RD, RM H1524^^PALO ALTO^CA^94304-1601\r -OBR|1|753234567^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBR|1|753234567^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBR|2|753234567^FormNumber||57128-1^Newborn Screening Report summary panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241018050017\r -OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241018050017\r -OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241018050017\r -OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA16207-5^Hemoglobinopathies^LN|||N|||F|||20241018050017\r -OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241018050017\r -OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - ALLIED LABORATORY \\R\\453 RAVENDALE DR, STE B, MOUNTAIN VIEW, CA 94043-5221\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Hb: An immediate referral to a CCS Hematology Center or a pediatric hematologist familiar with alpha thalassemia and Hb H disease is strongly recommended for this infant. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Stanford University Medical Center at (650) 724-8120. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241018050017\r -OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241018050017\r -OBR|3|753234567^FormNumber||57717-1^Newborn screen card data panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241018050017\r -OBX|2|NM|8339-4^Birthweight^LN|1|2658|grams||N|||F|||20241018050017\r -OBX|3|TM|57715-5^Time of birth^LN|1|0027|||N|||F|||20241018050017\r -OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241018050017\r -OBX|5|NM|73806-2^Newborn age in hours^LN|1|28|hour(s)||N|||F|||20241018050017\r -OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241018050017\r -OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241018050017\r -OBX|8|TX|^^^99717-5^Accession Number^L|1|272-95-009/21-2024-12|||N|||F|||20241018050017\r -OBX|9|TX|62324-9^Post-discharge provider name^LN|1|MELISSA SCALA|||N|||F|||20241018050017\r -OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|725 WELCH RD, RM H1524 PALO ALTO CA 94304-1601 USA|||N|||F|||20241018050017\r -OBR|4|753234567^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBR|5|753234567^FormNumber||53261-4^Amino acid newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|926|µmol/L||N|||F|||20241018050017\r -OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|588|µmol/L|<1000|N|||F|||20241018050017\r -OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|79.4|µmol/L||N|||F|||20241018050017\r -OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.29739|{Ratio}|<4.3|N|||F|||20241018050017\r -OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|99.2|µmol/L|<230|N|||F|||20241018050017\r -OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.17|{Ratio}|<1.35|N|||F|||20241018050017\r -OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|61.2|µmol/L|<175|N|||F|||20241018050017\r -OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.77|{Ratio}|<2.6|N|||F|||20241018050017\r -OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|34.7|µmol/L|<680|N|||F|||20241018050017\r -OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.33|µmol/L|<6.1|N|||F|||20241018050017\r -OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|20.4|µmol/L|6.3-100|N|||F|||20241018050017\r -OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|10|µmol/L|5-49|N|||F|||20241018050017\r -OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|2.79|{Ratio}|<4.8|N|||F|||20241018050017\r -OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|43|µmol/L|<800|N|||F|||20241018050017\r -OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|4.44|{Ratio}||N|||F|||20241018050017\r -OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|3|µmol/L|<63|N|||F|||20241018050017\r -OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.08|{Ratio}|<1.9|N|||F|||20241018050017\r -OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|187|µmol/L|<1500|N|||F|||20241018050017\r -OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050017\r -OBR|6|753234567^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r -OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050017\r -OBR|7|753234567^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|39.6|µmol/L|6.4-125|N|||F|||20241018050017\r -OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|5.35|{Ratio}|<70|N|||F|||20241018050017\r -OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|34.7|µmol/L|10-80|N|||F|||20241018050017\r -OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|3.27536|{Ratio}|<7.6|N|||F|||20241018050017\r -OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.100|µmol/L|<0.95|N|||F|||20241018050017\r -OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.075|µmol/L|<0.45|N|||F|||20241018050017\r -OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|1.09|{Ratio}||N|||F|||20241018050017\r -OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.163|µmol/L|<0.65|N|||F|||20241018050017\r -OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.069|µmol/L|<0.65|N|||F|||20241018050017\r -OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.057|µmol/L|<0.45|N|||F|||20241018050017\r -OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.118|µmol/L|<2|N|||F|||20241018050017\r -OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.06|µmol/L||N|||F|||20241018050017\r -OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.394|µmol/L|<1.2|N|||F|||20241018050017\r -OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.130|µmol/L|<0.9|N|||F|||20241018050017\r -OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|2.32|{Ratio}||N|||F|||20241018050017\r -OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.03|µmol/L||N|||F|||20241018050017\r -OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.026|µmol/L|<0.2|N|||F|||20241018050017\r -OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5.52|µmol/L|<12|N|||F|||20241018050017\r -OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.245|µmol/L|<1.4|N|||F|||20241018050017\r -OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.042|µmol/L|<0.1|N|||F|||20241018050017\r -OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00761|{Ratio}|<0.07|N|||F|||20241018050017\r -OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2.13|µmol/L|<3.5|N|||F|||20241018050017\r -OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.89|µmol/L|<7|N|||F|||20241018050017\r -OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.29|µmol/L||N|||F|||20241018050017\r -OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.032|µmol/L|<0.1|N|||F|||20241018050017\r -OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.047|µmol/L|<0.1|N|||F|||20241018050017\r -OBR|8|753234567^FormNumber||57085-3^Organic acid newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|4.2|µmol/L|<7.9|N|||F|||20241018050017\r -OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.12|{Ratio}|<0.42|N|||F|||20241018050017\r -OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.226|µmol/L|<0.48|N|||F|||20241018050017\r -OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.424|µmol/L|<1.7|N|||F|||20241018050017\r -OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.247|µmol/L|<0.95|N|||F|||20241018050017\r -OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.05881|{Ratio}|<0.38|N|||F|||20241018050017\r -OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.008|µmol/L|<0.5|N|||F|||20241018050017\r -OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.287|µmol/L|<1.15|N|||F|||20241018050017\r -OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.179|µmol/L|<0.38|N|||F|||20241018050017\r -OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.79204|{Ratio}|>0.1|N|||F|||20241018050017\r -OBR|9|753234567^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|18.50|ng/mL|<69|N|||F|||20241018050017\r -OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r -OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050017\r -OBR|10|753234567^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00013.8|nmol/L|<85|N|||F|||20241018050017\r -OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r -OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017\r -OBR|11|753234567^FormNumber||54090-6^Thyroid newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|NM|29575-8^Thyrotropin^LN|1|2.40|mIU/L|<29|N|||F|||20241018050017\r -OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r -OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017\r -OBR|12|753234567^FormNumber||54079-9^Galactosemia newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|293.00|enzyme units|>50|N|||F|||20241018050017\r -OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r -OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017\r -OBR|13|753234567^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA + Barts||||||F|||20241018050017\r -OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|The presence of Hb Barts at a high percentage is consistent with Hb H disease, a clinically significant hemoglobin disorder.||||||F|||20241018050017\r -OBR|14|753234567^FormNumber||57087-9^Biotinidase newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|43.76|ERU|>10|N|||F|||20241018050017\r -OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r -OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017\r -OBR|15|753234567^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|99|copies/µL|>18|N|||F|||20241018050017\r -OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r -OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017\r -OBR|16|753234567^FormNumber||63414-7^Pompe Disease newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|7.09|µmol/L/h|>=1.67|N|||F|||20241018050017\r -OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r -OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241018050017\r -OBR|17|753234567^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|8.33|µmol/L/h|>=0.86|N|||F|||20241018050017\r -OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r -OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017\r -OBR|18|753234567^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241018050017\r -OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r -OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241018050017\r -OBR|19|753234567^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|15.65|µmol/L/h|>=2.8|N|||F|||20241018050017\r -OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r -OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017\r -OBR|20|753234567^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r -OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241018050017\r -OBR|21|753234567^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.05|µmol/L|<=3|N|||F|||20241018050017\r -OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|616.49|µmol/L||N|||F|||20241018050017\r -OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|1.70||<=6|N|||F|||20241018050017\r -OBR|22|753234567^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241018050017\r -OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241018050017\r -OBR|23|753234567^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F\r -OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.260|µmol/L|<0.47|N|||F|||20241018050017\r +ORC|RE|753234567^FormNumber||56155532^HospOrdNumber||||||||^SCALA^MELISSA|||||||||STANFORD/LUCILE PACKARD CHILDREN'S HOSPI^^^^^^^^^R777|725 WELCH RD, RM H1524^^PALO ALTO^CA^94304-1601 +OBR|1|753234567^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBR|1|753234567^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBR|2|753234567^FormNumber||57128-1^Newborn Screening Report summary panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241018050017 +OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241018050017 +OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241018050017 +OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA16207-5^Hemoglobinopathies^LN|||N|||F|||20241018050017 +OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241018050017 +OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - ALLIED LABORATORY \\\453 RAVENDALE DR, STE B, MOUNTAIN VIEW, CA 94043-5221\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Hb: An immediate referral to a CCS Hematology Center or a pediatric hematologist familiar with alpha thalassemia and Hb H disease is strongly recommended for this infant. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Stanford University Medical Center at (650) 724-8120. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241018050017 +OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241018050017 +OBR|3|753234567^FormNumber||57717-1^Newborn screen card data panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241018050017 +OBX|2|NM|8339-4^Birthweight^LN|1|2658|grams||N|||F|||20241018050017 +OBX|3|TM|57715-5^Time of birth^LN|1|0027|||N|||F|||20241018050017 +OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241018050017 +OBX|5|NM|73806-2^Newborn age in hours^LN|1|28|hour(s)||N|||F|||20241018050017 +OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241018050017 +OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241018050017 +OBX|8|TX|^^^99717-5^Accession Number^L|1|272-95-009/21-2024-12|||N|||F|||20241018050017 +OBX|9|TX|62324-9^Post-discharge provider name^LN|1|MELISSA SCALA|||N|||F|||20241018050017 +OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|725 WELCH RD, RM H1524 PALO ALTO CA 94304-1601 USA|||N|||F|||20241018050017 +OBR|4|753234567^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBR|5|753234567^FormNumber||53261-4^Amino acid newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|926|µmol/L||N|||F|||20241018050017 +OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|588|µmol/L|<1000|N|||F|||20241018050017 +OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|79.4|µmol/L||N|||F|||20241018050017 +OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.29739|{Ratio}|<4.3|N|||F|||20241018050017 +OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|99.2|µmol/L|<230|N|||F|||20241018050017 +OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.17|{Ratio}|<1.35|N|||F|||20241018050017 +OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|61.2|µmol/L|<175|N|||F|||20241018050017 +OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.77|{Ratio}|<2.6|N|||F|||20241018050017 +OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|34.7|µmol/L|<680|N|||F|||20241018050017 +OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.33|µmol/L|<6.1|N|||F|||20241018050017 +OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|20.4|µmol/L|6.3-100|N|||F|||20241018050017 +OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|10|µmol/L|5-49|N|||F|||20241018050017 +OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|2.79|{Ratio}|<4.8|N|||F|||20241018050017 +OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|43|µmol/L|<800|N|||F|||20241018050017 +OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|4.44|{Ratio}||N|||F|||20241018050017 +OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|3|µmol/L|<63|N|||F|||20241018050017 +OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.08|{Ratio}|<1.9|N|||F|||20241018050017 +OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|187|µmol/L|<1500|N|||F|||20241018050017 +OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050017 +OBR|6|753234567^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 +OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050017 +OBR|7|753234567^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|39.6|µmol/L|6.4-125|N|||F|||20241018050017 +OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|5.35|{Ratio}|<70|N|||F|||20241018050017 +OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|34.7|µmol/L|10-80|N|||F|||20241018050017 +OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|3.27536|{Ratio}|<7.6|N|||F|||20241018050017 +OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.100|µmol/L|<0.95|N|||F|||20241018050017 +OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.075|µmol/L|<0.45|N|||F|||20241018050017 +OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|1.09|{Ratio}||N|||F|||20241018050017 +OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.163|µmol/L|<0.65|N|||F|||20241018050017 +OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.069|µmol/L|<0.65|N|||F|||20241018050017 +OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.057|µmol/L|<0.45|N|||F|||20241018050017 +OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.118|µmol/L|<2|N|||F|||20241018050017 +OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.06|µmol/L||N|||F|||20241018050017 +OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.394|µmol/L|<1.2|N|||F|||20241018050017 +OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.130|µmol/L|<0.9|N|||F|||20241018050017 +OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|2.32|{Ratio}||N|||F|||20241018050017 +OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.03|µmol/L||N|||F|||20241018050017 +OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.026|µmol/L|<0.2|N|||F|||20241018050017 +OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5.52|µmol/L|<12|N|||F|||20241018050017 +OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.245|µmol/L|<1.4|N|||F|||20241018050017 +OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.042|µmol/L|<0.1|N|||F|||20241018050017 +OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00761|{Ratio}|<0.07|N|||F|||20241018050017 +OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2.13|µmol/L|<3.5|N|||F|||20241018050017 +OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.89|µmol/L|<7|N|||F|||20241018050017 +OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.29|µmol/L||N|||F|||20241018050017 +OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.032|µmol/L|<0.1|N|||F|||20241018050017 +OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.047|µmol/L|<0.1|N|||F|||20241018050017 +OBR|8|753234567^FormNumber||57085-3^Organic acid newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|4.2|µmol/L|<7.9|N|||F|||20241018050017 +OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.12|{Ratio}|<0.42|N|||F|||20241018050017 +OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.226|µmol/L|<0.48|N|||F|||20241018050017 +OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.424|µmol/L|<1.7|N|||F|||20241018050017 +OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.247|µmol/L|<0.95|N|||F|||20241018050017 +OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.05881|{Ratio}|<0.38|N|||F|||20241018050017 +OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.008|µmol/L|<0.5|N|||F|||20241018050017 +OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.287|µmol/L|<1.15|N|||F|||20241018050017 +OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.179|µmol/L|<0.38|N|||F|||20241018050017 +OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.79204|{Ratio}|>0.1|N|||F|||20241018050017 +OBR|9|753234567^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|18.50|ng/mL|<69|N|||F|||20241018050017 +OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 +OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050017 +OBR|10|753234567^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00013.8|nmol/L|<85|N|||F|||20241018050017 +OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 +OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017 +OBR|11|753234567^FormNumber||54090-6^Thyroid newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|NM|29575-8^Thyrotropin^LN|1|2.40|mIU/L|<29|N|||F|||20241018050017 +OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 +OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017 +OBR|12|753234567^FormNumber||54079-9^Galactosemia newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|293.00|enzyme units|>50|N|||F|||20241018050017 +OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 +OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017 +OBR|13|753234567^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA + Barts||||||F|||20241018050017 +OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|The presence of Hb Barts at a high percentage is consistent with Hb H disease, a clinically significant hemoglobin disorder.||||||F|||20241018050017 +OBR|14|753234567^FormNumber||57087-9^Biotinidase newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|43.76|ERU|>10|N|||F|||20241018050017 +OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 +OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017 +OBR|15|753234567^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|99|copies/µL|>18|N|||F|||20241018050017 +OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 +OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017 +OBR|16|753234567^FormNumber||63414-7^Pompe Disease newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|7.09|µmol/L/h|>=1.67|N|||F|||20241018050017 +OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 +OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241018050017 +OBR|17|753234567^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|8.33|µmol/L/h|>=0.86|N|||F|||20241018050017 +OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 +OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017 +OBR|18|753234567^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241018050017 +OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 +OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241018050017 +OBR|19|753234567^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|15.65|µmol/L/h|>=2.8|N|||F|||20241018050017 +OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 +OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017 +OBR|20|753234567^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 +OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241018050017 +OBR|21|753234567^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.05|µmol/L|<=3|N|||F|||20241018050017 +OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|616.49|µmol/L||N|||F|||20241018050017 +OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|1.70||<=6|N|||F|||20241018050017 +OBR|22|753234567^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241018050017 +OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241018050017 +OBR|23|753234567^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F +OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.260|µmol/L|<0.47|N|||F|||20241018050017 diff --git a/examples/Test/GoldenCopy/Input/006_ORU_R01_golden_copy_input_sma_incomplete.hl7 b/examples/Test/GoldenCopy/Input/006_ORU_R01_golden_copy_input_sma_incomplete.hl7 new file mode 100644 index 000000000..b59a7680c --- /dev/null +++ b/examples/Test/GoldenCopy/Input/006_ORU_R01_golden_copy_input_sma_incomplete.hl7 @@ -0,0 +1,141 @@ +MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9413799^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241017050025||ORU^R01^ORU_R01|244014485|N|2.5.1\r +PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** +NK1|1|*****PII REMOVED****** +ORC|RE|789876543^FormNumber||||||||||1164928032^MURUGESAN^CHEZHIYAN^^^^^^^NPI|||||||||KERN MEDICAL CENTER^^^^^^^^^R092|1700 MOUNT VERNON AVE^^BAKERSFIELD^CA^93306-4018\r +OBR|1|789876543^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r +OBR|2|789876543^FormNumber||57128-1^Newborn Screening Report summary panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r +OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241017050025\r +OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241017050025\r +OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA12430-7^Out of range requiring further dried blood spot testing for at least one condition^LN|||N|||F|||20241017050025\r +OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241017050025\r +OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA22279-6^SMA^LN|||N|||F|||20241017050025\r +OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \\R\\2130 E Illinois Avenue, FRESNO, CA 93701\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Spinal Muscular Atrophy (SMA): The sample was not adequate to complete testing for SMA. A repeat NBS specimen MUST be collected. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Valley Children's Hospital at (559) 353-6416. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241017050025\r +OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241017050025\r +OBR|3|789876543^FormNumber||57717-1^Newborn screen card data panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r +OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241017050025\r +OBX|2|NM|8339-4^Birthweight^LN|1|2875|grams||N|||F|||20241017050025\r +OBX|3|TM|57715-5^Time of birth^LN|1|0202|||N|||F|||20241017050025\r +OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241017050025\r +OBX|5|NM|73806-2^Newborn age in hours^LN|1|27|hour(s)||N|||F|||20241017050025\r +OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241017050025\r +OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241017050025\r +OBX|8|TX|^^^99717-5^Accession Number^L|1|269-80-133/21-2024-21|||N|||F|||20241017050025\r +OBX|9|TX|62324-9^Post-discharge provider name^LN|1|CHEZHIYAN MURUGESAN|||N|||F|||20241017050025\r +OBX|10|TX|62325-6^Post-discharge provider practice ID^LN|1|1164928032|||N|||F|||20241017050025\r +OBX|11|TX|62327-2^Post-discharge provider practice address^LN|1|1700 MOUNT VERNON AVE BAKERSFIELD CA 93306-4018 USA|||N|||F|||20241017050025\r +OBR|4|789876543^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r +OBR|5|789876543^FormNumber||53261-4^Amino acid newborn screen panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r +OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|357|µmol/L||N|||F|||20241017050025\r +OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|398|µmol/L|<1000|N|||F|||20241017050025\r +OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|92.2|µmol/L||N|||F|||20241017050025\r +OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|2.05804|{Ratio}|<4.3|N|||F|||20241017050025\r +OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|84.2|µmol/L|<230|N|||F|||20241017050025\r +OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.21|{Ratio}|<1.35|N|||F|||20241017050025\r +OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|44.8|µmol/L|<175|N|||F|||20241017050025\r +OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.55|{Ratio}|<2.6|N|||F|||20241017050025\r +OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|81.7|µmol/L|<680|N|||F|||20241017050025\r +OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.20|µmol/L|<6.1|N|||F|||20241017050025\r +OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|11.1|µmol/L|6.3-100|N|||F|||20241017050025\r +OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|12|µmol/L|5-49|N|||F|||20241017050025\r +OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|1.72|{Ratio}|<4.8|N|||F|||20241017050025\r +OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|77|µmol/L|<800|N|||F|||20241017050025\r +OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|6.36|{Ratio}||N|||F|||20241017050025\r +OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|7|µmol/L|<63|N|||F|||20241017050025\r +OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.09|{Ratio}|<1.9|N|||F|||20241017050025\r +OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|136|µmol/L|<1500|N|||F|||20241017050025\r +OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241017050025\r +OBR|6|789876543^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r +OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025\r +OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241017050025\r +OBR|7|789876543^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r +OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|16.4|µmol/L|6.4-125|N|||F|||20241017050025\r +OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|3.65|{Ratio}|<70|N|||F|||20241017050025\r +OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|16.1|µmol/L|10-80|N|||F|||20241017050025\r +OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|2.06977|{Ratio}|<7.6|N|||F|||20241017050025\r +OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.075|µmol/L|<0.95|N|||F|||20241017050025\r +OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.049|µmol/L|<0.45|N|||F|||20241017050025\r +OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|1.14|{Ratio}||N|||F|||20241017050025\r +OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.042|µmol/L|<0.65|N|||F|||20241017050025\r +OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.043|µmol/L|<0.65|N|||F|||20241017050025\r +OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.026|µmol/L|<0.45|N|||F|||20241017050025\r +OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.071|µmol/L|<2|N|||F|||20241017050025\r +OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.05|µmol/L||N|||F|||20241017050025\r +OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.169|µmol/L|<1.2|N|||F|||20241017050025\r +OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.099|µmol/L|<0.9|N|||F|||20241017050025\r +OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.98|{Ratio}||N|||F|||20241017050025\r +OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.02|µmol/L||N|||F|||20241017050025\r +OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.015|µmol/L|<0.2|N|||F|||20241017050025\r +OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|2.91|µmol/L|<12|N|||F|||20241017050025\r +OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.221|µmol/L|<1.4|N|||F|||20241017050025\r +OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.021|µmol/L|<0.1|N|||F|||20241017050025\r +OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00722|{Ratio}|<0.07|N|||F|||20241017050025\r +OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|0.827|µmol/L|<3.5|N|||F|||20241017050025\r +OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.58|µmol/L|<7|N|||F|||20241017050025\r +OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.14|µmol/L||N|||F|||20241017050025\r +OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.013|µmol/L|<0.1|N|||F|||20241017050025\r +OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.028|µmol/L|<0.1|N|||F|||20241017050025\r +OBR|8|789876543^FormNumber||57085-3^Organic acid newborn screen panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r +OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|1.7|µmol/L|<7.9|N|||F|||20241017050025\r +OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.10|{Ratio}|<0.42|N|||F|||20241017050025\r +OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.089|µmol/L|<0.48|N|||F|||20241017050025\r +OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.229|µmol/L|<1.7|N|||F|||20241017050025\r +OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.081|µmol/L|<0.95|N|||F|||20241017050025\r +OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.04765|{Ratio}|<0.38|N|||F|||20241017050025\r +OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.005|µmol/L|<0.5|N|||F|||20241017050025\r +OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.216|µmol/L|<1.15|N|||F|||20241017050025\r +OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.080|µmol/L|<0.38|N|||F|||20241017050025\r +OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.89888|{Ratio}|>0.1|N|||F|||20241017050025\r +OBR|9|789876543^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r +OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|20.90|ng/mL|<69|N|||F|||20241017050025\r +OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025\r +OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241017050025\r +OBR|10|789876543^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r +OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00007.6|nmol/L|<85|N|||F|||20241017050025\r +OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025\r +OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241017050025\r +OBR|11|789876543^FormNumber||54090-6^Thyroid newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r +OBX|1|NM|29575-8^Thyrotropin^LN|1|6.10|mIU/L|<29|N|||F|||20241017050025\r +OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025\r +OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241017050025\r +OBR|12|789876543^FormNumber||54079-9^Galactosemia newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r +OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|173.29|enzyme units|>50|N|||F|||20241017050025\r +OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025\r +OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241017050025\r +OBR|13|789876543^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r +OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241017050025\r +OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241017050025\r +OBR|14|789876543^FormNumber||57087-9^Biotinidase newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r +OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|45.57|ERU|>10|N|||F|||20241017050025\r +OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025\r +OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241017050025\r +OBR|15|789876543^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r +OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|215|copies/µL|>18|N|||F|||20241017050025\r +OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025\r +OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241017050025\r +OBR|16|789876543^FormNumber||63414-7^Pompe Disease newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r +OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|6.94|µmol/L/h|>=1.54|N|||F|||20241017050025\r +OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025\r +OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241017050025\r +OBR|17|789876543^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r +OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|6.11|µmol/L/h|>=0.79|N|||F|||20241017050025\r +OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025\r +OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241017050025\r +OBR|18|789876543^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r +OBX|1|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA12430-7^Out of range requiring further dried blood spot testing for at least one condition^LN|||A|||F|||20241017050025\r +OBX|2|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Incomplete|||A|||F|||20241017050025\r +OBR|19|789876543^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r +OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|25.27|µmol/L/h|>=2.91|N|||F|||20241017050025\r +OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025\r +OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241017050025\r +OBR|20|789876543^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r +OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025\r +OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241017050025\r +OBR|21|789876543^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r +OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.10|µmol/L|<=3|N|||F|||20241017050025\r +OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|431.20|µmol/L||N|||F|||20241017050025\r +OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|2.56||<=6|N|||F|||20241017050025\r +OBR|22|789876543^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r +OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241017050025\r +OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241017050025\r +OBR|23|789876543^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r +OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.242|µmol/L|<0.47|N|||F|||20241017050025\r diff --git a/examples/Test/GoldenCopy/README.md b/examples/Test/GoldenCopy/README.md index df9af42a4..169f15e99 100644 --- a/examples/Test/GoldenCopy/README.md +++ b/examples/Test/GoldenCopy/README.md @@ -16,3 +16,14 @@ The files are required to: - Each file must have a unique value in `MSH-10`. We use this value to match the input and output files, so if it's not unique, we won't be able to match the files correctly - We format `MSH-10` based on the file index, like `001` (or `AUTOMATEDTEST-001` for UCSD) - `MSH-11` needs to have a value of `N` + +## Corresponding File Names + +The files map to each test scenario with the following naming: + +- 001_ORU_R01_golden_copy_input_acylc_1.hl7 -> Acylcarnitine - Indeterminate - SCADD - IBCDD patterns.hl7 +- 002_ORU_R01_golden_copy_input_acylc_2.hl7 -> Acylcarnitine - Indeterminate_2nd_example.hl7 +- 003_ORU_R01_golden_copy_input_aa_unusual.hl7 -> Amino Acid - Unusual Pattern.hl7.hl7 +- 004_ORU_R01_golden_copy_input_in_range.hl7 -> Out of Range - Hemoglobinopathies - Positive Marker.hl7 +- 005_ORU_R01_golden_copy_input_out_of_range.hl7 -> In range example.hl7 +- 006_ORU_R01_golden_copy_input_sma_incomplete.hl7 -> SMA Incomplete - Equivocal - Inadequate Specimen for SMA.hl7 From 401c50f253540bc6cbc61327a2c6ee75ebf0f4bb Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Thu, 19 Dec 2024 14:28:10 -0700 Subject: [PATCH 24/61] modify msh-10 header in example file Co-authored-by: jcrichlake <145698165+jcrichlake@users.noreply.github.com> --- .../Input/006_ORU_R01_golden_copy_input_sma_incomplete.hl7 | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/examples/Test/GoldenCopy/Input/006_ORU_R01_golden_copy_input_sma_incomplete.hl7 b/examples/Test/GoldenCopy/Input/006_ORU_R01_golden_copy_input_sma_incomplete.hl7 index b59a7680c..15913a9b9 100644 --- a/examples/Test/GoldenCopy/Input/006_ORU_R01_golden_copy_input_sma_incomplete.hl7 +++ b/examples/Test/GoldenCopy/Input/006_ORU_R01_golden_copy_input_sma_incomplete.hl7 @@ -1,4 +1,4 @@ -MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9413799^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241017050025||ORU^R01^ORU_R01|244014485|N|2.5.1\r +MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9413799^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241017050025||ORU^R01^ORU_R01|006|N|2.5.1\r PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** NK1|1|*****PII REMOVED****** ORC|RE|789876543^FormNumber||||||||||1164928032^MURUGESAN^CHEZHIYAN^^^^^^^NPI|||||||||KERN MEDICAL CENTER^^^^^^^^^R092|1700 MOUNT VERNON AVE^^BAKERSFIELD^CA^93306-4018\r From 229af631194a945722cb833b0702321839323f3f Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Thu, 19 Dec 2024 14:33:06 -0700 Subject: [PATCH 25/61] fix syntax Co-authored-by: jcrichlake <145698165+jcrichlake@users.noreply.github.com> --- .github/workflows/automated-staging-test-run.yml | 16 ++++++++-------- .../rse2e/GoldenCopyTest.groovy | 2 +- 2 files changed, 9 insertions(+), 9 deletions(-) diff --git a/.github/workflows/automated-staging-test-run.yml b/.github/workflows/automated-staging-test-run.yml index 96760ddd9..f28a27d79 100644 --- a/.github/workflows/automated-staging-test-run.yml +++ b/.github/workflows/automated-staging-test-run.yml @@ -23,13 +23,13 @@ jobs: - name: Determine variable type run: | - test_type="automatedTest" - title="Automated" - file_path="../examples/Test/Automated/" - if [ ${{ github.event.inputs.name }} = "Golden Copy Staging Test" ]; then - test_type="goldenCopyTest" - title="Golden Copy" - file_path="../examples/Test/GoldenCopy/Expected/" + test_type=automatedTest + title=Automated + file_path=../examples/Test/Automated/ + if [ "${{ github.event.inputs.name }}" == "Golden Copy Staging Test" ]; then + test_type=goldenCopyTest + title=Golden Copy + file_path=../examples/Test/GoldenCopy/Expected/ fi echo "test_type=$test_type" >> $GITHUB_OUTPUT echo "title=$title" >> $GITHUB_OUTPUT @@ -41,7 +41,7 @@ jobs: AZURE_STORAGE_CONNECTION_STRING: ${{ secrets.AUTOMATED_TEST_AZURE_STORAGE_CONNECTION_STRING }} LOCAL_FILE_PATH: ${{ steps.getFunctionList.outputs.file_path }} run: | - ./gradlew rs-e2e:clean rs-e2e:${{ test_type }} + ./gradlew rs-e2e:clean rs-e2e:${{ steps.getFunctionList.outputs.test_type }} done - name: Send slack notification on test failure diff --git a/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenCopyTest.groovy b/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenCopyTest.groovy index 86d6b3bc9..678379ec4 100644 --- a/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenCopyTest.groovy +++ b/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenCopyTest.groovy @@ -55,7 +55,7 @@ class GoldenCopyTest extends Specification { def "Compare files"() { // Currently reusing automated staging test workflows but we might need to pivot for cron schedule - // Get golden copy and input + // Get golden copy for 006 given: def matchedFiles = fileMatcher.matchFiles(azureFiles, localFiles) From 9485cdacd38ae52e7ffcf680d7fcfa28e2024038 Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Thu, 19 Dec 2024 14:39:25 -0700 Subject: [PATCH 26/61] remove breaks from example file Co-authored-by: jcrichlake <145698165+jcrichlake@users.noreply.github.com> Co-authored-by: James Herr --- ...U_R01_golden_copy_input_sma_incomplete.hl7 | 278 +++++++++--------- 1 file changed, 139 insertions(+), 139 deletions(-) diff --git a/examples/Test/GoldenCopy/Input/006_ORU_R01_golden_copy_input_sma_incomplete.hl7 b/examples/Test/GoldenCopy/Input/006_ORU_R01_golden_copy_input_sma_incomplete.hl7 index 15913a9b9..41e56f5e9 100644 --- a/examples/Test/GoldenCopy/Input/006_ORU_R01_golden_copy_input_sma_incomplete.hl7 +++ b/examples/Test/GoldenCopy/Input/006_ORU_R01_golden_copy_input_sma_incomplete.hl7 @@ -1,141 +1,141 @@ -MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9413799^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241017050025||ORU^R01^ORU_R01|006|N|2.5.1\r +MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9413799^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241017050025||ORU^R01^ORU_R01|006|N|2.5.1 PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** NK1|1|*****PII REMOVED****** -ORC|RE|789876543^FormNumber||||||||||1164928032^MURUGESAN^CHEZHIYAN^^^^^^^NPI|||||||||KERN MEDICAL CENTER^^^^^^^^^R092|1700 MOUNT VERNON AVE^^BAKERSFIELD^CA^93306-4018\r -OBR|1|789876543^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r -OBR|2|789876543^FormNumber||57128-1^Newborn Screening Report summary panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r -OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241017050025\r -OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241017050025\r -OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA12430-7^Out of range requiring further dried blood spot testing for at least one condition^LN|||N|||F|||20241017050025\r -OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241017050025\r -OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA22279-6^SMA^LN|||N|||F|||20241017050025\r -OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \\R\\2130 E Illinois Avenue, FRESNO, CA 93701\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Spinal Muscular Atrophy (SMA): The sample was not adequate to complete testing for SMA. A repeat NBS specimen MUST be collected. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Valley Children's Hospital at (559) 353-6416. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241017050025\r -OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241017050025\r -OBR|3|789876543^FormNumber||57717-1^Newborn screen card data panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r -OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241017050025\r -OBX|2|NM|8339-4^Birthweight^LN|1|2875|grams||N|||F|||20241017050025\r -OBX|3|TM|57715-5^Time of birth^LN|1|0202|||N|||F|||20241017050025\r -OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241017050025\r -OBX|5|NM|73806-2^Newborn age in hours^LN|1|27|hour(s)||N|||F|||20241017050025\r -OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241017050025\r -OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241017050025\r -OBX|8|TX|^^^99717-5^Accession Number^L|1|269-80-133/21-2024-21|||N|||F|||20241017050025\r -OBX|9|TX|62324-9^Post-discharge provider name^LN|1|CHEZHIYAN MURUGESAN|||N|||F|||20241017050025\r -OBX|10|TX|62325-6^Post-discharge provider practice ID^LN|1|1164928032|||N|||F|||20241017050025\r -OBX|11|TX|62327-2^Post-discharge provider practice address^LN|1|1700 MOUNT VERNON AVE BAKERSFIELD CA 93306-4018 USA|||N|||F|||20241017050025\r -OBR|4|789876543^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r -OBR|5|789876543^FormNumber||53261-4^Amino acid newborn screen panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r -OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|357|µmol/L||N|||F|||20241017050025\r -OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|398|µmol/L|<1000|N|||F|||20241017050025\r -OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|92.2|µmol/L||N|||F|||20241017050025\r -OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|2.05804|{Ratio}|<4.3|N|||F|||20241017050025\r -OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|84.2|µmol/L|<230|N|||F|||20241017050025\r -OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.21|{Ratio}|<1.35|N|||F|||20241017050025\r -OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|44.8|µmol/L|<175|N|||F|||20241017050025\r -OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.55|{Ratio}|<2.6|N|||F|||20241017050025\r -OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|81.7|µmol/L|<680|N|||F|||20241017050025\r -OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.20|µmol/L|<6.1|N|||F|||20241017050025\r -OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|11.1|µmol/L|6.3-100|N|||F|||20241017050025\r -OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|12|µmol/L|5-49|N|||F|||20241017050025\r -OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|1.72|{Ratio}|<4.8|N|||F|||20241017050025\r -OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|77|µmol/L|<800|N|||F|||20241017050025\r -OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|6.36|{Ratio}||N|||F|||20241017050025\r -OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|7|µmol/L|<63|N|||F|||20241017050025\r -OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.09|{Ratio}|<1.9|N|||F|||20241017050025\r -OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|136|µmol/L|<1500|N|||F|||20241017050025\r -OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241017050025\r -OBR|6|789876543^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r -OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025\r -OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241017050025\r -OBR|7|789876543^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r -OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|16.4|µmol/L|6.4-125|N|||F|||20241017050025\r -OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|3.65|{Ratio}|<70|N|||F|||20241017050025\r -OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|16.1|µmol/L|10-80|N|||F|||20241017050025\r -OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|2.06977|{Ratio}|<7.6|N|||F|||20241017050025\r -OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.075|µmol/L|<0.95|N|||F|||20241017050025\r -OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.049|µmol/L|<0.45|N|||F|||20241017050025\r -OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|1.14|{Ratio}||N|||F|||20241017050025\r -OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.042|µmol/L|<0.65|N|||F|||20241017050025\r -OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.043|µmol/L|<0.65|N|||F|||20241017050025\r -OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.026|µmol/L|<0.45|N|||F|||20241017050025\r -OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.071|µmol/L|<2|N|||F|||20241017050025\r -OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.05|µmol/L||N|||F|||20241017050025\r -OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.169|µmol/L|<1.2|N|||F|||20241017050025\r -OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.099|µmol/L|<0.9|N|||F|||20241017050025\r -OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.98|{Ratio}||N|||F|||20241017050025\r -OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.02|µmol/L||N|||F|||20241017050025\r -OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.015|µmol/L|<0.2|N|||F|||20241017050025\r -OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|2.91|µmol/L|<12|N|||F|||20241017050025\r -OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.221|µmol/L|<1.4|N|||F|||20241017050025\r -OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.021|µmol/L|<0.1|N|||F|||20241017050025\r -OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00722|{Ratio}|<0.07|N|||F|||20241017050025\r -OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|0.827|µmol/L|<3.5|N|||F|||20241017050025\r -OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.58|µmol/L|<7|N|||F|||20241017050025\r -OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.14|µmol/L||N|||F|||20241017050025\r -OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.013|µmol/L|<0.1|N|||F|||20241017050025\r -OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.028|µmol/L|<0.1|N|||F|||20241017050025\r -OBR|8|789876543^FormNumber||57085-3^Organic acid newborn screen panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r -OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|1.7|µmol/L|<7.9|N|||F|||20241017050025\r -OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.10|{Ratio}|<0.42|N|||F|||20241017050025\r -OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.089|µmol/L|<0.48|N|||F|||20241017050025\r -OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.229|µmol/L|<1.7|N|||F|||20241017050025\r -OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.081|µmol/L|<0.95|N|||F|||20241017050025\r -OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.04765|{Ratio}|<0.38|N|||F|||20241017050025\r -OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.005|µmol/L|<0.5|N|||F|||20241017050025\r -OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.216|µmol/L|<1.15|N|||F|||20241017050025\r -OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.080|µmol/L|<0.38|N|||F|||20241017050025\r -OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.89888|{Ratio}|>0.1|N|||F|||20241017050025\r -OBR|9|789876543^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r -OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|20.90|ng/mL|<69|N|||F|||20241017050025\r -OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025\r -OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241017050025\r -OBR|10|789876543^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r -OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00007.6|nmol/L|<85|N|||F|||20241017050025\r -OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025\r -OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241017050025\r -OBR|11|789876543^FormNumber||54090-6^Thyroid newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r -OBX|1|NM|29575-8^Thyrotropin^LN|1|6.10|mIU/L|<29|N|||F|||20241017050025\r -OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025\r -OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241017050025\r -OBR|12|789876543^FormNumber||54079-9^Galactosemia newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r -OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|173.29|enzyme units|>50|N|||F|||20241017050025\r -OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025\r -OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241017050025\r -OBR|13|789876543^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r -OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241017050025\r -OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241017050025\r -OBR|14|789876543^FormNumber||57087-9^Biotinidase newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r -OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|45.57|ERU|>10|N|||F|||20241017050025\r -OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025\r -OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241017050025\r -OBR|15|789876543^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r -OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|215|copies/µL|>18|N|||F|||20241017050025\r -OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025\r -OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241017050025\r -OBR|16|789876543^FormNumber||63414-7^Pompe Disease newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r -OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|6.94|µmol/L/h|>=1.54|N|||F|||20241017050025\r -OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025\r -OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241017050025\r -OBR|17|789876543^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r -OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|6.11|µmol/L/h|>=0.79|N|||F|||20241017050025\r -OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025\r -OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241017050025\r -OBR|18|789876543^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r -OBX|1|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA12430-7^Out of range requiring further dried blood spot testing for at least one condition^LN|||A|||F|||20241017050025\r -OBX|2|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Incomplete|||A|||F|||20241017050025\r -OBR|19|789876543^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r -OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|25.27|µmol/L/h|>=2.91|N|||F|||20241017050025\r -OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025\r -OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241017050025\r -OBR|20|789876543^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r -OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025\r -OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241017050025\r -OBR|21|789876543^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r -OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.10|µmol/L|<=3|N|||F|||20241017050025\r -OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|431.20|µmol/L||N|||F|||20241017050025\r -OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|2.56||<=6|N|||F|||20241017050025\r -OBR|22|789876543^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r -OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241017050025\r -OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241017050025\r -OBR|23|789876543^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F\r -OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.242|µmol/L|<0.47|N|||F|||20241017050025\r +ORC|RE|789876543^FormNumber||||||||||1164928032^MURUGESAN^CHEZHIYAN^^^^^^^NPI|||||||||KERN MEDICAL CENTER^^^^^^^^^R092|1700 MOUNT VERNON AVE^^BAKERSFIELD^CA^93306-4018 +OBR|1|789876543^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F +OBR|2|789876543^FormNumber||57128-1^Newborn Screening Report summary panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F +OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241017050025 +OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241017050025 +OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA12430-7^Out of range requiring further dried blood spot testing for at least one condition^LN|||N|||F|||20241017050025 +OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241017050025 +OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA22279-6^SMA^LN|||N|||F|||20241017050025 +OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \\\2130 E Illinois Avenue, FRESNO, CA 93701\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Spinal Muscular Atrophy (SMA): The sample was not adequate to complete testing for SMA. A repeat NBS specimen MUST be collected. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Valley Children's Hospital at (559) 353-6416. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241017050025 +OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241017050025 +OBR|3|789876543^FormNumber||57717-1^Newborn screen card data panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F +OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241017050025 +OBX|2|NM|8339-4^Birthweight^LN|1|2875|grams||N|||F|||20241017050025 +OBX|3|TM|57715-5^Time of birth^LN|1|0202|||N|||F|||20241017050025 +OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241017050025 +OBX|5|NM|73806-2^Newborn age in hours^LN|1|27|hour(s)||N|||F|||20241017050025 +OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241017050025 +OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241017050025 +OBX|8|TX|^^^99717-5^Accession Number^L|1|269-80-133/21-2024-21|||N|||F|||20241017050025 +OBX|9|TX|62324-9^Post-discharge provider name^LN|1|CHEZHIYAN MURUGESAN|||N|||F|||20241017050025 +OBX|10|TX|62325-6^Post-discharge provider practice ID^LN|1|1164928032|||N|||F|||20241017050025 +OBX|11|TX|62327-2^Post-discharge provider practice address^LN|1|1700 MOUNT VERNON AVE BAKERSFIELD CA 93306-4018 USA|||N|||F|||20241017050025 +OBR|4|789876543^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F +OBR|5|789876543^FormNumber||53261-4^Amino acid newborn screen panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F +OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|357|µmol/L||N|||F|||20241017050025 +OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|398|µmol/L|<1000|N|||F|||20241017050025 +OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|92.2|µmol/L||N|||F|||20241017050025 +OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|2.05804|{Ratio}|<4.3|N|||F|||20241017050025 +OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|84.2|µmol/L|<230|N|||F|||20241017050025 +OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.21|{Ratio}|<1.35|N|||F|||20241017050025 +OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|44.8|µmol/L|<175|N|||F|||20241017050025 +OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.55|{Ratio}|<2.6|N|||F|||20241017050025 +OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|81.7|µmol/L|<680|N|||F|||20241017050025 +OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.20|µmol/L|<6.1|N|||F|||20241017050025 +OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|11.1|µmol/L|6.3-100|N|||F|||20241017050025 +OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|12|µmol/L|5-49|N|||F|||20241017050025 +OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|1.72|{Ratio}|<4.8|N|||F|||20241017050025 +OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|77|µmol/L|<800|N|||F|||20241017050025 +OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|6.36|{Ratio}||N|||F|||20241017050025 +OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|7|µmol/L|<63|N|||F|||20241017050025 +OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.09|{Ratio}|<1.9|N|||F|||20241017050025 +OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|136|µmol/L|<1500|N|||F|||20241017050025 +OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241017050025 +OBR|6|789876543^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F +OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025 +OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241017050025 +OBR|7|789876543^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F +OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|16.4|µmol/L|6.4-125|N|||F|||20241017050025 +OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|3.65|{Ratio}|<70|N|||F|||20241017050025 +OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|16.1|µmol/L|10-80|N|||F|||20241017050025 +OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|2.06977|{Ratio}|<7.6|N|||F|||20241017050025 +OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.075|µmol/L|<0.95|N|||F|||20241017050025 +OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.049|µmol/L|<0.45|N|||F|||20241017050025 +OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|1.14|{Ratio}||N|||F|||20241017050025 +OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.042|µmol/L|<0.65|N|||F|||20241017050025 +OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.043|µmol/L|<0.65|N|||F|||20241017050025 +OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.026|µmol/L|<0.45|N|||F|||20241017050025 +OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.071|µmol/L|<2|N|||F|||20241017050025 +OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.05|µmol/L||N|||F|||20241017050025 +OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.169|µmol/L|<1.2|N|||F|||20241017050025 +OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.099|µmol/L|<0.9|N|||F|||20241017050025 +OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.98|{Ratio}||N|||F|||20241017050025 +OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.02|µmol/L||N|||F|||20241017050025 +OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.015|µmol/L|<0.2|N|||F|||20241017050025 +OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|2.91|µmol/L|<12|N|||F|||20241017050025 +OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.221|µmol/L|<1.4|N|||F|||20241017050025 +OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.021|µmol/L|<0.1|N|||F|||20241017050025 +OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00722|{Ratio}|<0.07|N|||F|||20241017050025 +OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|0.827|µmol/L|<3.5|N|||F|||20241017050025 +OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.58|µmol/L|<7|N|||F|||20241017050025 +OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.14|µmol/L||N|||F|||20241017050025 +OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.013|µmol/L|<0.1|N|||F|||20241017050025 +OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.028|µmol/L|<0.1|N|||F|||20241017050025 +OBR|8|789876543^FormNumber||57085-3^Organic acid newborn screen panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F +OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|1.7|µmol/L|<7.9|N|||F|||20241017050025 +OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.10|{Ratio}|<0.42|N|||F|||20241017050025 +OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.089|µmol/L|<0.48|N|||F|||20241017050025 +OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.229|µmol/L|<1.7|N|||F|||20241017050025 +OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.081|µmol/L|<0.95|N|||F|||20241017050025 +OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.04765|{Ratio}|<0.38|N|||F|||20241017050025 +OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.005|µmol/L|<0.5|N|||F|||20241017050025 +OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.216|µmol/L|<1.15|N|||F|||20241017050025 +OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.080|µmol/L|<0.38|N|||F|||20241017050025 +OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.89888|{Ratio}|>0.1|N|||F|||20241017050025 +OBR|9|789876543^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F +OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|20.90|ng/mL|<69|N|||F|||20241017050025 +OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025 +OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241017050025 +OBR|10|789876543^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F +OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00007.6|nmol/L|<85|N|||F|||20241017050025 +OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025 +OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241017050025 +OBR|11|789876543^FormNumber||54090-6^Thyroid newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F +OBX|1|NM|29575-8^Thyrotropin^LN|1|6.10|mIU/L|<29|N|||F|||20241017050025 +OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025 +OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241017050025 +OBR|12|789876543^FormNumber||54079-9^Galactosemia newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F +OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|173.29|enzyme units|>50|N|||F|||20241017050025 +OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025 +OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241017050025 +OBR|13|789876543^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F +OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241017050025 +OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241017050025 +OBR|14|789876543^FormNumber||57087-9^Biotinidase newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F +OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|45.57|ERU|>10|N|||F|||20241017050025 +OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025 +OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241017050025 +OBR|15|789876543^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F +OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|215|copies/µL|>18|N|||F|||20241017050025 +OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025 +OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241017050025 +OBR|16|789876543^FormNumber||63414-7^Pompe Disease newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F +OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|6.94|µmol/L/h|>=1.54|N|||F|||20241017050025 +OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025 +OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241017050025 +OBR|17|789876543^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F +OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|6.11|µmol/L/h|>=0.79|N|||F|||20241017050025 +OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025 +OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241017050025 +OBR|18|789876543^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F +OBX|1|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA12430-7^Out of range requiring further dried blood spot testing for at least one condition^LN|||A|||F|||20241017050025 +OBX|2|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Incomplete|||A|||F|||20241017050025 +OBR|19|789876543^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F +OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|25.27|µmol/L/h|>=2.91|N|||F|||20241017050025 +OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025 +OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241017050025 +OBR|20|789876543^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F +OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025 +OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241017050025 +OBR|21|789876543^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F +OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.10|µmol/L|<=3|N|||F|||20241017050025 +OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|431.20|µmol/L||N|||F|||20241017050025 +OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|2.56||<=6|N|||F|||20241017050025 +OBR|22|789876543^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F +OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241017050025 +OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241017050025 +OBR|23|789876543^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F +OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.242|µmol/L|<0.47|N|||F|||20241017050025 From 3c850de67739e8ed7cffc4b1d3a416b40ceb6578 Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Thu, 19 Dec 2024 14:45:13 -0700 Subject: [PATCH 27/61] add example file Co-authored-by: James Herr Co-authored-by: jcrichlake <145698165+jcrichlake@users.noreply.github.com> --- .../006_ORU_R01_golden_copy_expected_sma_incomplete.fhir | 1 + 1 file changed, 1 insertion(+) create mode 100644 examples/Test/GoldenCopy/Expected/006_ORU_R01_golden_copy_expected_sma_incomplete.fhir diff --git a/examples/Test/GoldenCopy/Expected/006_ORU_R01_golden_copy_expected_sma_incomplete.fhir b/examples/Test/GoldenCopy/Expected/006_ORU_R01_golden_copy_expected_sma_incomplete.fhir new file mode 100644 index 000000000..e5e8127a6 --- /dev/null +++ b/examples/Test/GoldenCopy/Expected/006_ORU_R01_golden_copy_expected_sma_incomplete.fhir @@ -0,0 +1 @@ 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A repeat NBS specimen MUST be collected. \\\\.br\\\\\\\\.br\\\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Valley Children's Hospital at (559) 353-6416. \\\\.br\\\\\\\\.br\\\\Methods and Limitations:\\\\.br\\\\\\\\.br\\\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\\\.br\\\\Attention Healthcare Provider:\\\\.br\\\\\\\\.br\\\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. 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Tier-1 newborn screening panel"}]},"subject":{"reference":"Patient/1734644417743785538.10c2aad2-5f4a-43c3-a39a-f4a9d881366e"},"effectiveDateTime":"2024-09-24T05:45:00Z","_effectiveDateTime":{"extension":[{"url":"https://reportstream.cdc.gov/fhir/StructureDefinition/hl7v2-date-time","valueString":"202409240545"}]},"issued":"2024-10-17T05:00:25Z","_issued":{"extension":[{"url":"https://reportstream.cdc.gov/fhir/StructureDefinition/hl7v2-date-time","valueString":"20241017050025"}]},"specimen":[{"reference":"Specimen/1734644418731522697.fcb6d558-720e-4d6f-9a85-25ea41a92f68"}],"result":[{"reference":"Observation/1734644418594486407.d26e1831-e4a9-4eed-a2e3-9e160856d54c"}]}}]} From 1f0dde268d1590276489a9f8033ea68b7051937c Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Thu, 19 Dec 2024 15:01:00 -0700 Subject: [PATCH 28/61] remove comment, add quotes to variable, and create workflow file Co-authored-by: James Herr --- .github/workflows/automated-staging-test-run.yml | 2 +- .github/workflows/golden-copy-staging-test-submit.yml | 0 .../gov/hhs/cdc/trustedintermediary/rse2e/GoldenCopyTest.groovy | 1 - 3 files changed, 1 insertion(+), 2 deletions(-) create mode 100644 .github/workflows/golden-copy-staging-test-submit.yml diff --git a/.github/workflows/automated-staging-test-run.yml b/.github/workflows/automated-staging-test-run.yml index f28a27d79..6b52e5300 100644 --- a/.github/workflows/automated-staging-test-run.yml +++ b/.github/workflows/automated-staging-test-run.yml @@ -28,7 +28,7 @@ jobs: file_path=../examples/Test/Automated/ if [ "${{ github.event.inputs.name }}" == "Golden Copy Staging Test" ]; then test_type=goldenCopyTest - title=Golden Copy + title="Golden Copy" file_path=../examples/Test/GoldenCopy/Expected/ fi echo "test_type=$test_type" >> $GITHUB_OUTPUT diff --git a/.github/workflows/golden-copy-staging-test-submit.yml b/.github/workflows/golden-copy-staging-test-submit.yml new file mode 100644 index 000000000..e69de29bb diff --git a/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenCopyTest.groovy b/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenCopyTest.groovy index 678379ec4..f54c664c0 100644 --- a/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenCopyTest.groovy +++ b/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenCopyTest.groovy @@ -55,7 +55,6 @@ class GoldenCopyTest extends Specification { def "Compare files"() { // Currently reusing automated staging test workflows but we might need to pivot for cron schedule - // Get golden copy for 006 given: def matchedFiles = fileMatcher.matchFiles(azureFiles, localFiles) From d7623aeac3954594c0a74e8ff7d76063912ddf0d Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Thu, 19 Dec 2024 15:04:12 -0700 Subject: [PATCH 29/61] remove done Co-authored-by: James Herr --- .github/workflows/automated-staging-test-run.yml | 1 - 1 file changed, 1 deletion(-) diff --git a/.github/workflows/automated-staging-test-run.yml b/.github/workflows/automated-staging-test-run.yml index 6b52e5300..0555b6ec0 100644 --- a/.github/workflows/automated-staging-test-run.yml +++ b/.github/workflows/automated-staging-test-run.yml @@ -34,7 +34,6 @@ jobs: echo "test_type=$test_type" >> $GITHUB_OUTPUT echo "title=$title" >> $GITHUB_OUTPUT echo "file_path=$file_path" >> $GITHUB_OUTPUT - done - name: Run automated tests env: From 92c039c5fa4cf9bcb2b33fc05c885d74cc7900ed Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Thu, 19 Dec 2024 15:05:15 -0700 Subject: [PATCH 30/61] remove unused workflow Co-authored-by: James Herr --- .github/workflows/golden-copy-staging-test-submit.yml | 0 1 file changed, 0 insertions(+), 0 deletions(-) delete mode 100644 .github/workflows/golden-copy-staging-test-submit.yml diff --git a/.github/workflows/golden-copy-staging-test-submit.yml b/.github/workflows/golden-copy-staging-test-submit.yml deleted file mode 100644 index e69de29bb..000000000 From f29edc1e9f2748ac52702d829cf7966a88a9c8a0 Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Thu, 19 Dec 2024 15:12:40 -0700 Subject: [PATCH 31/61] add id to workflow step Co-authored-by: James Herr --- .github/workflows/automated-staging-test-run.yml | 7 ++++--- 1 file changed, 4 insertions(+), 3 deletions(-) diff --git a/.github/workflows/automated-staging-test-run.yml b/.github/workflows/automated-staging-test-run.yml index 0555b6ec0..e75ecf99e 100644 --- a/.github/workflows/automated-staging-test-run.yml +++ b/.github/workflows/automated-staging-test-run.yml @@ -34,13 +34,14 @@ jobs: echo "test_type=$test_type" >> $GITHUB_OUTPUT echo "title=$title" >> $GITHUB_OUTPUT echo "file_path=$file_path" >> $GITHUB_OUTPUT + id: getVariableType - name: Run automated tests env: AZURE_STORAGE_CONNECTION_STRING: ${{ secrets.AUTOMATED_TEST_AZURE_STORAGE_CONNECTION_STRING }} - LOCAL_FILE_PATH: ${{ steps.getFunctionList.outputs.file_path }} + LOCAL_FILE_PATH: ${{ steps.getVariableType.outputs.file_path }} run: | - ./gradlew rs-e2e:clean rs-e2e:${{ steps.getFunctionList.outputs.test_type }} + ./gradlew rs-e2e:clean rs-e2e:${{ steps.getVariableType.outputs.test_type }} done - name: Send slack notification on test failure @@ -50,4 +51,4 @@ jobs: webhook: ${{ secrets.SLACK_WEBHOOK_URL }} webhook-type: incoming-webhook payload: | - text: "${{ steps.getFunctionList.outputs.title }} Staging RS Integration Test Failed!: https://github.com/CDCgov/trusted-intermediary/actions/runs/${{ github.run_id }}" + text: "${{ steps.getVariableType.outputs.title }} Staging RS Integration Test Failed!: https://github.com/CDCgov/trusted-intermediary/actions/runs/${{ github.run_id }}" From 5b648b77b5da9f2ee270a8611cf6a6b8ce37b1ee Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Thu, 19 Dec 2024 16:14:30 -0700 Subject: [PATCH 32/61] separate workflows and update readme --- .../workflows/automated-staging-test-run.yml | 49 ++------------ .../automated-staging-test-submit.yml | 67 ++----------------- .../golden-copy-staging-test-run.yml | 17 +++++ .../golden-copy-staging-test-submit.yml | 16 +++++ .../workflows/staging-test-run-reusable.yml | 42 ++++++++++++ .../staging-test-submit-reusable.yml | 64 ++++++++++++++++++ examples/Test/GoldenCopy/README.md | 4 +- 7 files changed, 151 insertions(+), 108 deletions(-) create mode 100644 .github/workflows/golden-copy-staging-test-run.yml create mode 100644 .github/workflows/golden-copy-staging-test-submit.yml create mode 100644 .github/workflows/staging-test-run-reusable.yml create mode 100644 .github/workflows/staging-test-submit-reusable.yml diff --git a/.github/workflows/automated-staging-test-run.yml b/.github/workflows/automated-staging-test-run.yml index e75ecf99e..3cef43b98 100644 --- a/.github/workflows/automated-staging-test-run.yml +++ b/.github/workflows/automated-staging-test-run.yml @@ -3,52 +3,15 @@ name: Automated Staging Test - Run integration tests on: schedule: - cron: "0 7 * * 2-6" # Tuesday to Saturday at 2am EST (7am UTC) - two hours after `automated-staging-test-submit` runs - workflow_dispatch: - inputs: - name: - type: choice - description: Type of Staging Test - default: Automated Staging Test - options: - - Automated Staging Test - - Golden Copy Staging Test jobs: - test_files: + send_files: runs-on: ubuntu-latest steps: - - name: Check out the repository - uses: actions/checkout@v4 - - - name: Determine variable type - run: | - test_type=automatedTest - title=Automated - file_path=../examples/Test/Automated/ - if [ "${{ github.event.inputs.name }}" == "Golden Copy Staging Test" ]; then - test_type=goldenCopyTest - title="Golden Copy" - file_path=../examples/Test/GoldenCopy/Expected/ - fi - echo "test_type=$test_type" >> $GITHUB_OUTPUT - echo "title=$title" >> $GITHUB_OUTPUT - echo "file_path=$file_path" >> $GITHUB_OUTPUT - id: getVariableType - - - name: Run automated tests - env: - AZURE_STORAGE_CONNECTION_STRING: ${{ secrets.AUTOMATED_TEST_AZURE_STORAGE_CONNECTION_STRING }} - LOCAL_FILE_PATH: ${{ steps.getVariableType.outputs.file_path }} - run: | - ./gradlew rs-e2e:clean rs-e2e:${{ steps.getVariableType.outputs.test_type }} - done - - - name: Send slack notification on test failure - if: failure() - uses: slackapi/slack-github-action@v2.0.0 + - name: Call staging-test-run.yml + uses: .github/workflows/staging-test-run-reusable.yml with: - webhook: ${{ secrets.SLACK_WEBHOOK_URL }} - webhook-type: incoming-webhook - payload: | - text: "${{ steps.getVariableType.outputs.title }} Staging RS Integration Test Failed!: https://github.com/CDCgov/trusted-intermediary/actions/runs/${{ github.run_id }}" + FILE_PATH: '../examples/Test/Automated/' + NAME: 'Automated' + TEST_TYPE: 'automatedTest' diff --git a/.github/workflows/automated-staging-test-submit.yml b/.github/workflows/automated-staging-test-submit.yml index 594c5aa28..278d01807 100644 --- a/.github/workflows/automated-staging-test-submit.yml +++ b/.github/workflows/automated-staging-test-submit.yml @@ -3,72 +3,13 @@ name: Automated Staging Test - Submit Messages on: schedule: - cron: "0 5 * * 2-6" # Tuesday to Saturday at Midnight EST (5am UTC) - workflow_dispatch: - inputs: - name: - type: choice - description: Type of Staging Test - default: Automated Staging Test - options: - - Automated Staging Test - - Golden Copy Staging Test jobs: send_files: runs-on: ubuntu-latest steps: - - name: Check out the repository - uses: actions/checkout@v4 - - - name: Install jq - run: sudo apt-get install -y jq - - - name: Install jwt-cli - run: | - curl --silent --location https://github.com/mike-engel/jwt-cli/releases/latest/download/jwt-linux.tar.gz | tar xvz -C /usr/local/bin/ - sudo chmod +x /usr/local/bin/jwt - - - name: Write private key to file - run: | - echo "${{ secrets.SIMULATED_SENDER_STAGING_PRIVATE_KEY }}" > /tmp/staging_private_key.pem - chmod 600 /tmp/staging_private_key.pem - - - name: Send HL7 sample messages to staging RS - run: | - host=https://staging.prime.cdc.gov:443 - client_id=flexion - client_sender=simulated-sender - jwt=$(jwt encode --exp='+5min' --jti $(uuidgen) --alg RS256 \ - -k $client_id.$client_sender -i $client_id.$client_sender \ - -s $client_id.$client_sender -a $host --no-iat -S @/tmp/staging_private_key.pem) - - token=$(curl \ - --header "Content-Type: application/x-www-form-urlencoded" \ - --data "scope=$client_id.*.report" \ - --data "client_assertion=$jwt" \ - --data "client_assertion_type=urn:ietf:params:oauth:client-assertion-type:jwt-bearer" \ - --data "grant_type=client_credentials" \ - --silent \ - "$host/api/token" | jq -r ".access_token") - - file_path=Automated/*.hl7 - if [ "${{ github.event.inputs.name }}" == "Golden Copy Staging Test" ]; then - file_path=GoldenCopy/Input/*.hl7 - fi - - for file in $(pwd)/examples/Test/$file_path; do - echo "Sending $file" - curl \ - --header "Content-Type: application/hl7-v2" \ - --header "Client: $client_id.$client_sender" \ - --header "Authorization: Bearer $token" \ - --data-binary "@$file" \ - --silent \ - "$host/api/waters" - done - - - name: Clean up private key - if: always() - run: | - rm -f /tmp/staging_private_key.pem + - name: Call staging-test-submit.yml + uses: .github/workflows/staging-test-submit-reusable.yml + with: + FILE_PATH: 'Automated/*.hl7' diff --git a/.github/workflows/golden-copy-staging-test-run.yml b/.github/workflows/golden-copy-staging-test-run.yml new file mode 100644 index 000000000..14ff1dae6 --- /dev/null +++ b/.github/workflows/golden-copy-staging-test-run.yml @@ -0,0 +1,17 @@ +name: Golden Copy Staging Test - Run integration tests + +on: + schedule: + - cron: "0 7 * * 2-6" # Tuesday to Saturday at 2am EST (7am UTC) - two hours after `automated-staging-test-submit` runs + +jobs: + send_files: + runs-on: ubuntu-latest + + steps: + - name: Call staging-test-run.yml + uses: .github/workflows/staging-test-run-reusable.yml + with: + FILE_PATH: '../examples/Test/GoldenCopy/Expected/' + NAME: 'Golden Copy' + TEST_TYPE: 'goldenCopyTest' diff --git a/.github/workflows/golden-copy-staging-test-submit.yml b/.github/workflows/golden-copy-staging-test-submit.yml new file mode 100644 index 000000000..fddc8e11f --- /dev/null +++ b/.github/workflows/golden-copy-staging-test-submit.yml @@ -0,0 +1,16 @@ +name: Golden Copy Staging Test - Submit Messages + +on: + schedule: + - cron: "0 5 * * 2-6" + workflow_dispatch: + +jobs: + send_files: + runs-on: ubuntu-latest + + steps: + - name: Call staging-test-submit.yml + uses: .github/workflows/staging-test-submit-reusable.yml + with: + FILE_PATH: 'GoldenCopy/Input/*.hl7' diff --git a/.github/workflows/staging-test-run-reusable.yml b/.github/workflows/staging-test-run-reusable.yml new file mode 100644 index 000000000..e12a31404 --- /dev/null +++ b/.github/workflows/staging-test-run-reusable.yml @@ -0,0 +1,42 @@ +name: Staging Test - Run integration tests + +on: + workflow_call: + inputs: + TEST_TYPE: + type: string + description: The e2e test to run + required: true + NAME: + type: string + description: The name of test + required: true + FILE_PATH: + type: string + description: The path to local files + required: true + +jobs: + test_files: + runs-on: ubuntu-latest + + steps: + - name: Check out the repository + uses: actions/checkout@v4 + + - name: Run automated tests + env: + AZURE_STORAGE_CONNECTION_STRING: ${{ secrets.AUTOMATED_TEST_AZURE_STORAGE_CONNECTION_STRING }} + LOCAL_FILE_PATH: ${{ github.event.inputs.FILE_PATH }} + run: | + ./gradlew rs-e2e:clean rs-e2e:${{ github.event.inputs.TEST_TYPE }} + done + + - name: Send slack notification on test failure + if: failure() + uses: slackapi/slack-github-action@v2.0.0 + with: + webhook: ${{ secrets.SLACK_WEBHOOK_URL }} + webhook-type: incoming-webhook + payload: | + text: "${{ github.event.inputs.NAME }} Staging RS Integration Test Failed!: https://github.com/CDCgov/trusted-intermediary/actions/runs/${{ github.run_id }}" diff --git a/.github/workflows/staging-test-submit-reusable.yml b/.github/workflows/staging-test-submit-reusable.yml new file mode 100644 index 000000000..6d1736743 --- /dev/null +++ b/.github/workflows/staging-test-submit-reusable.yml @@ -0,0 +1,64 @@ +name: Staging Test - Submit Messages + +on: + workflow_call: + inputs: + FILE_PATH: + required: true + type: string + description: File path location to submit + +jobs: + send_files: + runs-on: ubuntu-latest + + steps: + - name: Check out the repository + uses: actions/checkout@v4 + + - name: Install jq + run: sudo apt-get install -y jq + + - name: Install jwt-cli + run: | + curl --silent --location https://github.com/mike-engel/jwt-cli/releases/latest/download/jwt-linux.tar.gz | tar xvz -C /usr/local/bin/ + sudo chmod +x /usr/local/bin/jwt + + - name: Write private key to file + run: | + echo "${{ secrets.SIMULATED_SENDER_STAGING_PRIVATE_KEY }}" > /tmp/staging_private_key.pem + chmod 600 /tmp/staging_private_key.pem + + - name: Send HL7 sample messages to staging RS + run: | + host=https://staging.prime.cdc.gov:443 + client_id=flexion + client_sender=simulated-sender + jwt=$(jwt encode --exp='+5min' --jti $(uuidgen) --alg RS256 \ + -k $client_id.$client_sender -i $client_id.$client_sender \ + -s $client_id.$client_sender -a $host --no-iat -S @/tmp/staging_private_key.pem) + + token=$(curl \ + --header "Content-Type: application/x-www-form-urlencoded" \ + --data "scope=$client_id.*.report" \ + --data "client_assertion=$jwt" \ + --data "client_assertion_type=urn:ietf:params:oauth:client-assertion-type:jwt-bearer" \ + --data "grant_type=client_credentials" \ + --silent \ + "$host/api/token" | jq -r ".access_token") + + for file in $(pwd)/examples/Test/${{ github.event.inputs.FILE_PATH }}; do + echo "Sending $file" + curl \ + --header "Content-Type: application/hl7-v2" \ + --header "Client: $client_id.$client_sender" \ + --header "Authorization: Bearer $token" \ + --data-binary "@$file" \ + --silent \ + "$host/api/waters" + done + + - name: Clean up private key + if: always() + run: | + rm -f /tmp/staging_private_key.pem diff --git a/examples/Test/GoldenCopy/README.md b/examples/Test/GoldenCopy/README.md index 169f15e99..fa012933e 100644 --- a/examples/Test/GoldenCopy/README.md +++ b/examples/Test/GoldenCopy/README.md @@ -1,9 +1,9 @@ This folder contains the HL7 sample files that are used in the Golden Copy ReportStream -integration tests. The [automated-staging-test-submit.yml](/.github/workflows/automated-staging-test-submit.yml) +integration tests. The [golden-copy-staging-test-submit.yml](/.github/workflows/golden-copy-staging-test-submit.yml) Github workflow that runs daily will grab these files and send them to ReportStream in staging. The files are expected to go through the whole flow and to be delivered to an Azure blob container that will later be used by the -[automated-staging-test-run.yml](/.github/workflows/automated-staging-test-run.yml) workflow to run tests on them by comparing the golden copy to the actual output. +[golden-copy-staging-test-run.yml](/.github/workflows/golden-copy-staging-test-run.yml) workflow to run tests on them by comparing the golden copy to the actual output. ## Requirements for the HL7 files From 7b545da348462f059576ae663e812d73115dd874 Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Thu, 19 Dec 2024 17:34:11 -0700 Subject: [PATCH 33/61] add notes on next steps --- .../trustedintermediary/rse2e/AzureBlobOrganizer.java | 9 ++++++++- 1 file changed, 8 insertions(+), 1 deletion(-) diff --git a/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/AzureBlobOrganizer.java b/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/AzureBlobOrganizer.java index 4f61997e0..3a7345216 100644 --- a/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/AzureBlobOrganizer.java +++ b/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/AzureBlobOrganizer.java @@ -46,13 +46,20 @@ public void organizeAndCleanupBlobsByDate(int retentionDays, ZoneId timeZone) { continue; } + // TODO - separate the content by golden or automated so it can be distinguished + // when its pulled down + // modify destinationName to be test folder specific + // possibly read blob and modify parseAndMapMessageByControlId or use its parts to + // get a different MSH header like getIdentifier + // possibly use a different receiver and filter on that + String destinationName = AzureBlobHelper.createDateBasedPath(sourceCreationDate, sourceName); + BlobClient destinationBlob = blobContainerClient.getBlobClient(destinationName); destinationBlob .beginCopy(sourceBlob.getBlobUrl(), null) .waitForCompletion(Duration.ofSeconds(30)); - CopyStatusType copyStatus = destinationBlob.getProperties().getCopyStatus(); if (copyStatus == CopyStatusType.SUCCESS) { sourceBlob.delete(); From ccca6ab5d24c1c303bcd320350e3e5f35fd68476 Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Fri, 20 Dec 2024 10:32:21 -0700 Subject: [PATCH 34/61] stub out filter for organizing and fetching azure files Co-authored-by: James Herr Co-authored-by: Sylvie --- .../rse2e/AzureBlobFileFetcher.java | 15 ++++++++++++++- .../rse2e/AzureBlobOrganizer.java | 13 ++++++++----- 2 files changed, 22 insertions(+), 6 deletions(-) diff --git a/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/AzureBlobFileFetcher.java b/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/AzureBlobFileFetcher.java index 4d9a3a478..d6d950916 100644 --- a/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/AzureBlobFileFetcher.java +++ b/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/AzureBlobFileFetcher.java @@ -47,12 +47,25 @@ public static FileFetcher getInstance() { return INSTANCE; } + // TODO - we need to modify the guts to only grab the golden or automated path @Override public List fetchFiles() { + String files_path = System.getenv("LOCAL_FILE_PATH"); + if (files_path == null || files_path.isEmpty()) { + throw new IllegalArgumentException("Environment variable LOCAL_FILE_PATH is not set"); + } + List relevantFiles = new ArrayList<>(); LocalDate today = LocalDate.now(TIME_ZONE); - String pathPrefix = AzureBlobHelper.buildDatePathPrefix(today); + String datePrefix = AzureBlobHelper.buildDatePathPrefix(today); + + // TODO - update base on AzureBlobOrganizer + String pathPrefix = datePrefix + "Automated/"; + if (files_path.contains("GoldenCopy")) { + pathPrefix += datePrefix + "GoldenCopy/"; + } + ListBlobsOptions options = new ListBlobsOptions().setPrefix(pathPrefix); for (BlobItem blobItem : blobContainerClient.listBlobs(options, null)) { BlobClient blobClient = blobContainerClient.getBlobClient(blobItem.getName()); diff --git a/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/AzureBlobOrganizer.java b/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/AzureBlobOrganizer.java index 3a7345216..11a0be79e 100644 --- a/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/AzureBlobOrganizer.java +++ b/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/AzureBlobOrganizer.java @@ -47,14 +47,17 @@ public void organizeAndCleanupBlobsByDate(int retentionDays, ZoneId timeZone) { } // TODO - separate the content by golden or automated so it can be distinguished - // when its pulled down - // modify destinationName to be test folder specific - // possibly read blob and modify parseAndMapMessageByControlId or use its parts to - // get a different MSH header like getIdentifier + // when its pulled down and modify destinationName to be test folder specific // possibly use a different receiver and filter on that + String testTypeAndSourceName = "Automated/" + sourceName; + if (sourceBlob.getBlobName().contains("golden")) { + testTypeAndSourceName = "GoldenCopy/" + sourceName; + } + String destinationName = - AzureBlobHelper.createDateBasedPath(sourceCreationDate, sourceName); + AzureBlobHelper.createDateBasedPath( + sourceCreationDate, testTypeAndSourceName); BlobClient destinationBlob = blobContainerClient.getBlobClient(destinationName); destinationBlob From 6873446efe0e5926e400ee964be7919e00466c20 Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Mon, 23 Dec 2024 11:08:34 -0700 Subject: [PATCH 35/61] modify filter for file paths Co-authored-by: James Herr --- .../hhs/cdc/trustedintermediary/rse2e/AzureBlobOrganizer.java | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/AzureBlobOrganizer.java b/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/AzureBlobOrganizer.java index 11a0be79e..094b0c739 100644 --- a/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/AzureBlobOrganizer.java +++ b/rs-e2e/src/main/java/gov/hhs/cdc/trustedintermediary/rse2e/AzureBlobOrganizer.java @@ -51,7 +51,7 @@ public void organizeAndCleanupBlobsByDate(int retentionDays, ZoneId timeZone) { // possibly use a different receiver and filter on that String testTypeAndSourceName = "Automated/" + sourceName; - if (sourceBlob.getBlobName().contains("golden")) { + if (sourceBlob.getBlobName().contains("GOLDEN-COPY")) { testTypeAndSourceName = "GoldenCopy/" + sourceName; } From 9fbe6fa0533773c879ebd12591ea783e7c67ae59 Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Mon, 23 Dec 2024 11:09:31 -0700 Subject: [PATCH 36/61] update readme and file examples base on filter for new receiver Co-authored-by: James Herr --- .../GoldenCopy/Input/001_ORU_R01_golden_copy_input_acylc_1.hl7 | 2 +- .../GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 | 2 +- .../Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 | 2 +- .../GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 | 2 +- .../Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 | 2 +- .../Input/006_ORU_R01_golden_copy_input_sma_incomplete.hl7 | 2 +- examples/Test/GoldenCopy/README.md | 1 + 7 files changed, 7 insertions(+), 6 deletions(-) diff --git a/examples/Test/GoldenCopy/Input/001_ORU_R01_golden_copy_input_acylc_1.hl7 b/examples/Test/GoldenCopy/Input/001_ORU_R01_golden_copy_input_acylc_1.hl7 index a93c6ef84..1a235664a 100644 --- a/examples/Test/GoldenCopy/Input/001_ORU_R01_golden_copy_input_acylc_1.hl7 +++ b/examples/Test/GoldenCopy/Input/001_ORU_R01_golden_copy_input_acylc_1.hl7 @@ -1,4 +1,4 @@ -MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9413816^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241015050654||ORU^R01^ORU_R01|001|N|2.5.1 +MSH|^~\\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^9413816^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241015050654||ORU^R01^ORU_R01|001|N|2.5.1 PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** NK1|1|*****PII REMOVED****** ORC|RE|673678765^FormNumber||M17965^HospOrdNumber||||||||1477542173^BROOKS^STEWART^^^^^^^NPI|||||||||CEDARS-SINAI MEDICAL CENTER^^^^^^^^^R150|8700 BEVERLY BLVD^^W HOLLYWOOD^CA^90048-1804 diff --git a/examples/Test/GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 b/examples/Test/GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 index eb4377c51..971a44185 100644 --- a/examples/Test/GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 +++ b/examples/Test/GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 @@ -1,4 +1,4 @@ -MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9413816^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241018050234||ORU^R01^ORU_R01|002|N|2.5.1 +MSH|^~\\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^9413816^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241018050234||ORU^R01^ORU_R01|002|N|2.5.1 PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** NK1|1|*****PII REMOVED****** ORC|RE|12345667867^FormNumber||S30500^HospOrdNumber||||||||1194257170^MAHMOOD^SARAH^^^^^^^NPI|||||||||CEDARS-SINAI MEDICAL CENTER^^^^^^^^^R150|8700 BEVERLY BLVD^^W HOLLYWOOD^CA^90048-1804 diff --git a/examples/Test/GoldenCopy/Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 b/examples/Test/GoldenCopy/Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 index d5fb3472e..7f48ad1ff 100644 --- a/examples/Test/GoldenCopy/Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 +++ b/examples/Test/GoldenCopy/Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 @@ -1,4 +1,4 @@ -MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9414049^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241023050044||ORU^R01^ORU_R01|003|N|2.5.1 +MSH|^~\\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^9414049^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241023050044||ORU^R01^ORU_R01|003|N|2.5.1 PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** NK1|1|*****PII REMOVED****** ORC|RE|45789876^FormNumber||56352742^HospOrdNumber||||||||1043390461^PROFIT^DR JOCHEN^^^^^^^NPI|||||||||STANFORD/LUCILE PACKARD CHILDREN'S HOSPI^^^^^^^^^R777|725 WELCH RD, RM H1524^^PALO ALTO^CA^94304-1601 diff --git a/examples/Test/GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 b/examples/Test/GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 index 8b4b6f202..fac1f1dc2 100644 --- a/examples/Test/GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 +++ b/examples/Test/GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 @@ -1,4 +1,4 @@ -MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241030050154||ORU^R01^ORU_R01|004|N|2.5.1 +MSH|^~\\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241030050154||ORU^R01^ORU_R01|004|N|2.5.1 PID|1||335441864^^^104638912487&NPI^MR||*****PII REMOVED****** NK1|1|*****PII REMOVED****** ORC|RE|356672001^FormNumber||629813494^HospOrdNumber||||||||1093050858^SILVA^RICHARD^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|200 W ARBOR DR^^SAN DIEGO^CA^92103-1911 diff --git a/examples/Test/GoldenCopy/Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 b/examples/Test/GoldenCopy/Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 index 6f949201c..f4f0b0172 100644 --- a/examples/Test/GoldenCopy/Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 +++ b/examples/Test/GoldenCopy/Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 @@ -1,4 +1,4 @@ -MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9414049^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241018050017||ORU^R01^ORU_R01|005|N|2.5.1 +MSH|^~\\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^9414049^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241018050017||ORU^R01^ORU_R01|005|N|2.5.1 PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** NK1|1|*****PII REMOVED****** ORC|RE|753234567^FormNumber||56155532^HospOrdNumber||||||||^SCALA^MELISSA|||||||||STANFORD/LUCILE PACKARD CHILDREN'S HOSPI^^^^^^^^^R777|725 WELCH RD, RM H1524^^PALO ALTO^CA^94304-1601 diff --git a/examples/Test/GoldenCopy/Input/006_ORU_R01_golden_copy_input_sma_incomplete.hl7 b/examples/Test/GoldenCopy/Input/006_ORU_R01_golden_copy_input_sma_incomplete.hl7 index 41e56f5e9..0c4469d8c 100644 --- a/examples/Test/GoldenCopy/Input/006_ORU_R01_golden_copy_input_sma_incomplete.hl7 +++ b/examples/Test/GoldenCopy/Input/006_ORU_R01_golden_copy_input_sma_incomplete.hl7 @@ -1,4 +1,4 @@ -MSH|^~\\&|SISGDSP|SISGDSP|SISHIERECEIVER^9413799^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241017050025||ORU^R01^ORU_R01|006|N|2.5.1 +MSH|^~\\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^9413799^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241017050025||ORU^R01^ORU_R01|006|N|2.5.1 PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** NK1|1|*****PII REMOVED****** ORC|RE|789876543^FormNumber||||||||||1164928032^MURUGESAN^CHEZHIYAN^^^^^^^NPI|||||||||KERN MEDICAL CENTER^^^^^^^^^R092|1700 MOUNT VERNON AVE^^BAKERSFIELD^CA^93306-4018 diff --git a/examples/Test/GoldenCopy/README.md b/examples/Test/GoldenCopy/README.md index fa012933e..8ca036481 100644 --- a/examples/Test/GoldenCopy/README.md +++ b/examples/Test/GoldenCopy/README.md @@ -16,6 +16,7 @@ The files are required to: - Each file must have a unique value in `MSH-10`. We use this value to match the input and output files, so if it's not unique, we won't be able to match the files correctly - We format `MSH-10` based on the file index, like `001` (or `AUTOMATEDTEST-001` for UCSD) - `MSH-11` needs to have a value of `N` +- `MSH-3` needs to be `GOLDEN-COPY` ## Corresponding File Names From 885cd21f0c6255fc6c79cfd6a3cff157fcf7f7a7 Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Mon, 23 Dec 2024 11:14:55 -0700 Subject: [PATCH 37/61] fix uses pathing Co-authored-by: James Herr --- .github/workflows/automated-staging-test-run.yml | 2 +- .github/workflows/automated-staging-test-submit.yml | 2 +- 2 files changed, 2 insertions(+), 2 deletions(-) diff --git a/.github/workflows/automated-staging-test-run.yml b/.github/workflows/automated-staging-test-run.yml index 3cef43b98..b5e0bb8c1 100644 --- a/.github/workflows/automated-staging-test-run.yml +++ b/.github/workflows/automated-staging-test-run.yml @@ -10,7 +10,7 @@ jobs: steps: - name: Call staging-test-run.yml - uses: .github/workflows/staging-test-run-reusable.yml + uses: ./.github/workflows/staging-test-run-reusable.yml with: FILE_PATH: '../examples/Test/Automated/' NAME: 'Automated' diff --git a/.github/workflows/automated-staging-test-submit.yml b/.github/workflows/automated-staging-test-submit.yml index 278d01807..7e11f648c 100644 --- a/.github/workflows/automated-staging-test-submit.yml +++ b/.github/workflows/automated-staging-test-submit.yml @@ -10,6 +10,6 @@ jobs: steps: - name: Call staging-test-submit.yml - uses: .github/workflows/staging-test-submit-reusable.yml + uses: ./.github/workflows/staging-test-submit-reusable.yml with: FILE_PATH: 'Automated/*.hl7' From bc8382096040ab14564f308c4ecfebd8626c9c9c Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Mon, 23 Dec 2024 11:16:43 -0700 Subject: [PATCH 38/61] fix uses pathing Co-authored-by: James Herr --- .github/workflows/golden-copy-staging-test-run.yml | 2 +- .github/workflows/golden-copy-staging-test-submit.yml | 2 +- 2 files changed, 2 insertions(+), 2 deletions(-) diff --git a/.github/workflows/golden-copy-staging-test-run.yml b/.github/workflows/golden-copy-staging-test-run.yml index 14ff1dae6..39a8e38a3 100644 --- a/.github/workflows/golden-copy-staging-test-run.yml +++ b/.github/workflows/golden-copy-staging-test-run.yml @@ -10,7 +10,7 @@ jobs: steps: - name: Call staging-test-run.yml - uses: .github/workflows/staging-test-run-reusable.yml + uses: ./.github/workflows/staging-test-run-reusable.yml with: FILE_PATH: '../examples/Test/GoldenCopy/Expected/' NAME: 'Golden Copy' diff --git a/.github/workflows/golden-copy-staging-test-submit.yml b/.github/workflows/golden-copy-staging-test-submit.yml index fddc8e11f..2ce5e49fc 100644 --- a/.github/workflows/golden-copy-staging-test-submit.yml +++ b/.github/workflows/golden-copy-staging-test-submit.yml @@ -11,6 +11,6 @@ jobs: steps: - name: Call staging-test-submit.yml - uses: .github/workflows/staging-test-submit-reusable.yml + uses: ./.github/workflows/staging-test-submit-reusable.yml with: FILE_PATH: 'GoldenCopy/Input/*.hl7' From cf0489f3c8f178ef5eeb1833d6f8a232954ebc84 Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Mon, 23 Dec 2024 11:23:36 -0700 Subject: [PATCH 39/61] add workflow dispatch Co-authored-by: James Herr --- .github/workflows/automated-staging-test-run.yml | 1 + .github/workflows/automated-staging-test-submit.yml | 1 + .github/workflows/golden-copy-staging-test-run.yml | 1 + 3 files changed, 3 insertions(+) diff --git a/.github/workflows/automated-staging-test-run.yml b/.github/workflows/automated-staging-test-run.yml index b5e0bb8c1..c0d4e8b3e 100644 --- a/.github/workflows/automated-staging-test-run.yml +++ b/.github/workflows/automated-staging-test-run.yml @@ -3,6 +3,7 @@ name: Automated Staging Test - Run integration tests on: schedule: - cron: "0 7 * * 2-6" # Tuesday to Saturday at 2am EST (7am UTC) - two hours after `automated-staging-test-submit` runs + workflow_dispatch: jobs: send_files: diff --git a/.github/workflows/automated-staging-test-submit.yml b/.github/workflows/automated-staging-test-submit.yml index 7e11f648c..56cc4fab4 100644 --- a/.github/workflows/automated-staging-test-submit.yml +++ b/.github/workflows/automated-staging-test-submit.yml @@ -3,6 +3,7 @@ name: Automated Staging Test - Submit Messages on: schedule: - cron: "0 5 * * 2-6" # Tuesday to Saturday at Midnight EST (5am UTC) + workflow_dispatch: jobs: send_files: diff --git a/.github/workflows/golden-copy-staging-test-run.yml b/.github/workflows/golden-copy-staging-test-run.yml index 39a8e38a3..e10d8cf2e 100644 --- a/.github/workflows/golden-copy-staging-test-run.yml +++ b/.github/workflows/golden-copy-staging-test-run.yml @@ -3,6 +3,7 @@ name: Golden Copy Staging Test - Run integration tests on: schedule: - cron: "0 7 * * 2-6" # Tuesday to Saturday at 2am EST (7am UTC) - two hours after `automated-staging-test-submit` runs + workflow_dispatch: jobs: send_files: From 91371ae2f5adf7e8ebf5a1c191ec6c32502ed758 Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Mon, 23 Dec 2024 14:11:01 -0700 Subject: [PATCH 40/61] combine submit workflows into one and update readmes Co-authored-by: James Herr --- .../automated-staging-test-submit.yml | 16 ----- .../golden-copy-staging-test-submit.yml | 16 ----- .../staging-test-submit-reusable.yml | 8 +-- .github/workflows/staging-test-submit.yml | 66 +++++++++++++++++++ examples/Test/Automated/README.md | 2 +- examples/Test/GoldenCopy/README.md | 2 +- 6 files changed, 72 insertions(+), 38 deletions(-) delete mode 100644 .github/workflows/automated-staging-test-submit.yml delete mode 100644 .github/workflows/golden-copy-staging-test-submit.yml create mode 100644 .github/workflows/staging-test-submit.yml diff --git a/.github/workflows/automated-staging-test-submit.yml b/.github/workflows/automated-staging-test-submit.yml deleted file mode 100644 index 56cc4fab4..000000000 --- a/.github/workflows/automated-staging-test-submit.yml +++ /dev/null @@ -1,16 +0,0 @@ -name: Automated Staging Test - Submit Messages - -on: - schedule: - - cron: "0 5 * * 2-6" # Tuesday to Saturday at Midnight EST (5am UTC) - workflow_dispatch: - -jobs: - send_files: - runs-on: ubuntu-latest - - steps: - - name: Call staging-test-submit.yml - uses: ./.github/workflows/staging-test-submit-reusable.yml - with: - FILE_PATH: 'Automated/*.hl7' diff --git a/.github/workflows/golden-copy-staging-test-submit.yml b/.github/workflows/golden-copy-staging-test-submit.yml deleted file mode 100644 index 2ce5e49fc..000000000 --- a/.github/workflows/golden-copy-staging-test-submit.yml +++ /dev/null @@ -1,16 +0,0 @@ -name: Golden Copy Staging Test - Submit Messages - -on: - schedule: - - cron: "0 5 * * 2-6" - workflow_dispatch: - -jobs: - send_files: - runs-on: ubuntu-latest - - steps: - - name: Call staging-test-submit.yml - uses: ./.github/workflows/staging-test-submit-reusable.yml - with: - FILE_PATH: 'GoldenCopy/Input/*.hl7' diff --git a/.github/workflows/staging-test-submit-reusable.yml b/.github/workflows/staging-test-submit-reusable.yml index 6d1736743..a8b0c449e 100644 --- a/.github/workflows/staging-test-submit-reusable.yml +++ b/.github/workflows/staging-test-submit-reusable.yml @@ -10,8 +10,6 @@ on: jobs: send_files: - runs-on: ubuntu-latest - steps: - name: Check out the repository uses: actions/checkout@v4 @@ -21,8 +19,8 @@ jobs: - name: Install jwt-cli run: | - curl --silent --location https://github.com/mike-engel/jwt-cli/releases/latest/download/jwt-linux.tar.gz | tar xvz -C /usr/local/bin/ - sudo chmod +x /usr/local/bin/jwt + curl --silent --location https://github.com/mike-engel/jwt-cli/releases/latest/download/jwt-linux.tar.gz | tar xvz -C /usr/local/bin/ + sudo chmod +x /usr/local/bin/jwt - name: Write private key to file run: | @@ -62,3 +60,5 @@ jobs: if: always() run: | rm -f /tmp/staging_private_key.pem + + runs-on: diff --git a/.github/workflows/staging-test-submit.yml b/.github/workflows/staging-test-submit.yml new file mode 100644 index 000000000..8fe4a9898 --- /dev/null +++ b/.github/workflows/staging-test-submit.yml @@ -0,0 +1,66 @@ +name: Staging Test - Submit Messages + +on: + schedule: + - cron: "0 5 * * 2-6" # Tuesday to Saturday at Midnight EST (5am UTC) + workflow_dispatch: + +jobs: + send_files: + runs-on: ubuntu-latest + + steps: + - name: Check out the repository + uses: actions/checkout@v4 + + - name: Install jq + run: sudo apt-get install -y jq + + - name: Install jwt-cli + run: | + curl --silent --location https://github.com/mike-engel/jwt-cli/releases/latest/download/jwt-linux.tar.gz | tar xvz -C /usr/local/bin/ + sudo chmod +x /usr/local/bin/jwt + + - name: Write private key to file + run: | + echo "${{ secrets.SIMULATED_SENDER_STAGING_PRIVATE_KEY }}" > /tmp/staging_private_key.pem + chmod 600 /tmp/staging_private_key.pem + + - name: Send HL7 sample messages to staging RS + run: | + host=https://staging.prime.cdc.gov:443 + client_id=flexion + client_sender=simulated-sender + jwt=$(jwt encode --exp='+5min' --jti $(uuidgen) --alg RS256 \ + -k $client_id.$client_sender -i $client_id.$client_sender \ + -s $client_id.$client_sender -a $host --no-iat -S @/tmp/staging_private_key.pem) + + token=$(curl \ + --header "Content-Type: application/x-www-form-urlencoded" \ + --data "scope=$client_id.*.report" \ + --data "client_assertion=$jwt" \ + --data "client_assertion_type=urn:ietf:params:oauth:client-assertion-type:jwt-bearer" \ + --data "grant_type=client_credentials" \ + --silent \ + "$host/api/token" | jq -r ".access_token") + + sendFiles () { + folder_path=$1 + for file in "$(pwd)/examples/Test/$folder_path"; do + echo "Sending $file" + curl \ + --header "Content-Type: application/hl7-v2" \ + --header "Client: $client_id.$client_sender" \ + --header "Authorization: Bearer $token" \ + --data-binary "@$file" \ + --silent \ + "$host/api/waters" + done + } + sendFiles "'Automated/*.hl7'" + sendFiles "'GoldenCopy/Input/*.hl7'" + + - name: Clean up private key + if: always() + run: | + rm -f /tmp/staging_private_key.pem diff --git a/examples/Test/Automated/README.md b/examples/Test/Automated/README.md index c7a01e231..122330276 100644 --- a/examples/Test/Automated/README.md +++ b/examples/Test/Automated/README.md @@ -1,5 +1,5 @@ This folder contains the HL7 sample files that are used in the automated ReportStream -integration tests. The [automated-staging-test-submit.yml](/.github/workflows/automated-staging-test-submit.yml) +integration tests. The [automated-staging-test-submit.yml](/.github/workflows/staging-test-submit.yml) Github workflow that runs daily will grab these files and send them to ReportStream in staging. The files are expected to go through the whole flow and to be delivered to an Azure blob container that will later be used by the diff --git a/examples/Test/GoldenCopy/README.md b/examples/Test/GoldenCopy/README.md index 8ca036481..bf104ae6b 100644 --- a/examples/Test/GoldenCopy/README.md +++ b/examples/Test/GoldenCopy/README.md @@ -1,5 +1,5 @@ This folder contains the HL7 sample files that are used in the Golden Copy ReportStream -integration tests. The [golden-copy-staging-test-submit.yml](/.github/workflows/golden-copy-staging-test-submit.yml) +integration tests. The [golden-copy-staging-test-submit.yml](/.github/workflows/staging-test-submit.yml) Github workflow that runs daily will grab these files and send them to ReportStream in staging. The files are expected to go through the whole flow and to be delivered to an Azure blob container that will later be used by the From 000d590157f1f040228568949adfea5e66e52047 Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Mon, 23 Dec 2024 14:11:48 -0700 Subject: [PATCH 41/61] delete unused workflow Co-authored-by: James Herr --- .../staging-test-submit-reusable.yml | 64 ------------------- 1 file changed, 64 deletions(-) delete mode 100644 .github/workflows/staging-test-submit-reusable.yml diff --git a/.github/workflows/staging-test-submit-reusable.yml b/.github/workflows/staging-test-submit-reusable.yml deleted file mode 100644 index a8b0c449e..000000000 --- a/.github/workflows/staging-test-submit-reusable.yml +++ /dev/null @@ -1,64 +0,0 @@ -name: Staging Test - Submit Messages - -on: - workflow_call: - inputs: - FILE_PATH: - required: true - type: string - description: File path location to submit - -jobs: - send_files: - steps: - - name: Check out the repository - uses: actions/checkout@v4 - - - name: Install jq - run: sudo apt-get install -y jq - - - name: Install jwt-cli - run: | - curl --silent --location https://github.com/mike-engel/jwt-cli/releases/latest/download/jwt-linux.tar.gz | tar xvz -C /usr/local/bin/ - sudo chmod +x /usr/local/bin/jwt - - - name: Write private key to file - run: | - echo "${{ secrets.SIMULATED_SENDER_STAGING_PRIVATE_KEY }}" > /tmp/staging_private_key.pem - chmod 600 /tmp/staging_private_key.pem - - - name: Send HL7 sample messages to staging RS - run: | - host=https://staging.prime.cdc.gov:443 - client_id=flexion - client_sender=simulated-sender - jwt=$(jwt encode --exp='+5min' --jti $(uuidgen) --alg RS256 \ - -k $client_id.$client_sender -i $client_id.$client_sender \ - -s $client_id.$client_sender -a $host --no-iat -S @/tmp/staging_private_key.pem) - - token=$(curl \ - --header "Content-Type: application/x-www-form-urlencoded" \ - --data "scope=$client_id.*.report" \ - --data "client_assertion=$jwt" \ - --data "client_assertion_type=urn:ietf:params:oauth:client-assertion-type:jwt-bearer" \ - --data "grant_type=client_credentials" \ - --silent \ - "$host/api/token" | jq -r ".access_token") - - for file in $(pwd)/examples/Test/${{ github.event.inputs.FILE_PATH }}; do - echo "Sending $file" - curl \ - --header "Content-Type: application/hl7-v2" \ - --header "Client: $client_id.$client_sender" \ - --header "Authorization: Bearer $token" \ - --data-binary "@$file" \ - --silent \ - "$host/api/waters" - done - - - name: Clean up private key - if: always() - run: | - rm -f /tmp/staging_private_key.pem - - runs-on: From 06558f7cccc2f9cf8438334a1852624a0f1b971f Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Mon, 23 Dec 2024 14:16:51 -0700 Subject: [PATCH 42/61] rename reusable workflow Co-authored-by: James Herr --- .github/workflows/automated-staging-test-run.yml | 2 +- .github/workflows/golden-copy-staging-test-run.yml | 4 ++-- ...ng-test-run-reusable.yml => staging-test-run_reusable.yml} | 0 3 files changed, 3 insertions(+), 3 deletions(-) rename .github/workflows/{staging-test-run-reusable.yml => staging-test-run_reusable.yml} (100%) diff --git a/.github/workflows/automated-staging-test-run.yml b/.github/workflows/automated-staging-test-run.yml index c0d4e8b3e..493e9b24c 100644 --- a/.github/workflows/automated-staging-test-run.yml +++ b/.github/workflows/automated-staging-test-run.yml @@ -11,7 +11,7 @@ jobs: steps: - name: Call staging-test-run.yml - uses: ./.github/workflows/staging-test-run-reusable.yml + uses: ./.github/workflows/staging-test-run_reusable.yml with: FILE_PATH: '../examples/Test/Automated/' NAME: 'Automated' diff --git a/.github/workflows/golden-copy-staging-test-run.yml b/.github/workflows/golden-copy-staging-test-run.yml index e10d8cf2e..af5ef38a6 100644 --- a/.github/workflows/golden-copy-staging-test-run.yml +++ b/.github/workflows/golden-copy-staging-test-run.yml @@ -2,7 +2,7 @@ name: Golden Copy Staging Test - Run integration tests on: schedule: - - cron: "0 7 * * 2-6" # Tuesday to Saturday at 2am EST (7am UTC) - two hours after `automated-staging-test-submit` runs + - cron: "10 7 * * 2-6" # Tuesday to Saturday at 2am EST (7:10am UTC) - two hours after `automated-staging-test-submit` runs workflow_dispatch: jobs: @@ -11,7 +11,7 @@ jobs: steps: - name: Call staging-test-run.yml - uses: ./.github/workflows/staging-test-run-reusable.yml + uses: ./.github/workflows/staging-test-run_reusable.yml with: FILE_PATH: '../examples/Test/GoldenCopy/Expected/' NAME: 'Golden Copy' diff --git a/.github/workflows/staging-test-run-reusable.yml b/.github/workflows/staging-test-run_reusable.yml similarity index 100% rename from .github/workflows/staging-test-run-reusable.yml rename to .github/workflows/staging-test-run_reusable.yml From 0fba3fb5098b042a0faad338b859ebc302234a69 Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Mon, 23 Dec 2024 14:30:43 -0700 Subject: [PATCH 43/61] readd the og workflow and delete new one Co-authored-by: James Herr Co-authored-by: basiliskus <541149+basiliskus@users.noreply.github.com> --- ...{staging-test-submit.yml => automated-staging-test-submit.yml} | 0 1 file changed, 0 insertions(+), 0 deletions(-) rename .github/workflows/{staging-test-submit.yml => automated-staging-test-submit.yml} (100%) diff --git a/.github/workflows/staging-test-submit.yml b/.github/workflows/automated-staging-test-submit.yml similarity index 100% rename from .github/workflows/staging-test-submit.yml rename to .github/workflows/automated-staging-test-submit.yml From a9cf564832dd9fbd75d42ad157c83ae8a4425fc4 Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Mon, 23 Dec 2024 14:37:44 -0700 Subject: [PATCH 44/61] move folders around Co-authored-by: James Herr Co-authored-by: basiliskus <541149+basiliskus@users.noreply.github.com> --- .../automated-staging-test-submit.yml | 25 ++++++++----------- ...taging_ORM_O01_short_linked_to_002_ORU.hl7 | 0 ...taging_ORU_O01_short_linked_to_001_ORM.hl7 | 0 .../003_CA_ORU_R01_CDPH_produced.hl7 | 0 .../004_CA_ORU_R01_leading_zeroes.hl7 | 0 .../005_CA_ORU_R01_no_leading_zeroes.hl7 | 0 .../{ => Assertion}/006_CA_ORU_R01_LOINC.hl7 | 0 .../{ => Assertion}/007_CA_ORU_R01_PLT.hl7 | 0 .../008_ORU_R01_micro_character_encoding.hl7 | 0 .../009_CA_ORU_R01_remove_99717-5_OBX.hl7 | 0 ...01_NBS_0_initial_obr_flatten_example_1.hl7 | 0 .../Test/Automated/{ => Assertion}/README.md | 2 +- ..._ORU_R01_golden_copy_expected_acylc_1.fhir | 0 ..._ORU_R01_golden_copy_expected_acylc_2.fhir | 0 ...U_R01_golden_copy_expected_aa_unusual.fhir | 0 ...ORU_R01_golden_copy_expected_in_range.fhir | 0 ...R01_golden_copy_expected_out_of_range.fhir | 0 ...1_golden_copy_expected_sma_incomplete.fhir | 0 .../001_ORU_R01_golden_copy_input_acylc_1.hl7 | 0 .../002_ORU_R01_golden_copy_input_acylc_2.hl7 | 0 ...3_ORU_R01_golden_copy_input_aa_unusual.hl7 | 0 ...004_ORU_R01_golden_copy_input_in_range.hl7 | 0 ...ORU_R01_golden_copy_input_out_of_range.hl7 | 0 ...U_R01_golden_copy_input_sma_incomplete.hl7 | 0 .../Test/{ => Automated}/GoldenCopy/README.md | 2 +- 25 files changed, 12 insertions(+), 17 deletions(-) rename examples/Test/Automated/{ => Assertion}/001_Staging_ORM_O01_short_linked_to_002_ORU.hl7 (100%) rename examples/Test/Automated/{ => Assertion}/002_Staging_ORU_O01_short_linked_to_001_ORM.hl7 (100%) rename examples/Test/Automated/{ => Assertion}/003_CA_ORU_R01_CDPH_produced.hl7 (100%) rename examples/Test/Automated/{ => Assertion}/004_CA_ORU_R01_leading_zeroes.hl7 (100%) rename examples/Test/Automated/{ => Assertion}/005_CA_ORU_R01_no_leading_zeroes.hl7 (100%) rename examples/Test/Automated/{ => Assertion}/006_CA_ORU_R01_LOINC.hl7 (100%) rename examples/Test/Automated/{ => Assertion}/007_CA_ORU_R01_PLT.hl7 (100%) rename examples/Test/Automated/{ => Assertion}/008_ORU_R01_micro_character_encoding.hl7 (100%) rename examples/Test/Automated/{ => Assertion}/009_CA_ORU_R01_remove_99717-5_OBX.hl7 (100%) rename examples/Test/Automated/{ => Assertion}/010_LA_ORU_R01_NBS_0_initial_obr_flatten_example_1.hl7 (100%) rename examples/Test/Automated/{ => Assertion}/README.md (96%) rename examples/Test/{ => Automated}/GoldenCopy/Expected/001_ORU_R01_golden_copy_expected_acylc_1.fhir (100%) rename examples/Test/{ => Automated}/GoldenCopy/Expected/002_ORU_R01_golden_copy_expected_acylc_2.fhir (100%) rename examples/Test/{ => Automated}/GoldenCopy/Expected/003_ORU_R01_golden_copy_expected_aa_unusual.fhir (100%) rename examples/Test/{ => Automated}/GoldenCopy/Expected/004_ORU_R01_golden_copy_expected_in_range.fhir (100%) rename examples/Test/{ => Automated}/GoldenCopy/Expected/005_ORU_R01_golden_copy_expected_out_of_range.fhir (100%) rename examples/Test/{ => Automated}/GoldenCopy/Expected/006_ORU_R01_golden_copy_expected_sma_incomplete.fhir (100%) rename examples/Test/{ => Automated}/GoldenCopy/Input/001_ORU_R01_golden_copy_input_acylc_1.hl7 (100%) rename examples/Test/{ => Automated}/GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 (100%) rename examples/Test/{ => Automated}/GoldenCopy/Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 (100%) rename examples/Test/{ => Automated}/GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 (100%) rename examples/Test/{ => Automated}/GoldenCopy/Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 (100%) rename examples/Test/{ => Automated}/GoldenCopy/Input/006_ORU_R01_golden_copy_input_sma_incomplete.hl7 (100%) rename examples/Test/{ => Automated}/GoldenCopy/README.md (97%) diff --git a/.github/workflows/automated-staging-test-submit.yml b/.github/workflows/automated-staging-test-submit.yml index 8fe4a9898..51c6527a4 100644 --- a/.github/workflows/automated-staging-test-submit.yml +++ b/.github/workflows/automated-staging-test-submit.yml @@ -44,21 +44,16 @@ jobs: --silent \ "$host/api/token" | jq -r ".access_token") - sendFiles () { - folder_path=$1 - for file in "$(pwd)/examples/Test/$folder_path"; do - echo "Sending $file" - curl \ - --header "Content-Type: application/hl7-v2" \ - --header "Client: $client_id.$client_sender" \ - --header "Authorization: Bearer $token" \ - --data-binary "@$file" \ - --silent \ - "$host/api/waters" - done - } - sendFiles "'Automated/*.hl7'" - sendFiles "'GoldenCopy/Input/*.hl7'" + for file in $(pwd)/examples/Test/Automated/**/*.hl7; do + echo "Sending $file" + curl \ + --header "Content-Type: application/hl7-v2" \ + --header "Client: $client_id.$client_sender" \ + --header "Authorization: Bearer $token" \ + --data-binary "@$file" \ + --silent \ + "$host/api/waters" + done - name: Clean up private key if: always() diff --git a/examples/Test/Automated/001_Staging_ORM_O01_short_linked_to_002_ORU.hl7 b/examples/Test/Automated/Assertion/001_Staging_ORM_O01_short_linked_to_002_ORU.hl7 similarity index 100% rename from examples/Test/Automated/001_Staging_ORM_O01_short_linked_to_002_ORU.hl7 rename to examples/Test/Automated/Assertion/001_Staging_ORM_O01_short_linked_to_002_ORU.hl7 diff --git a/examples/Test/Automated/002_Staging_ORU_O01_short_linked_to_001_ORM.hl7 b/examples/Test/Automated/Assertion/002_Staging_ORU_O01_short_linked_to_001_ORM.hl7 similarity index 100% rename from examples/Test/Automated/002_Staging_ORU_O01_short_linked_to_001_ORM.hl7 rename to examples/Test/Automated/Assertion/002_Staging_ORU_O01_short_linked_to_001_ORM.hl7 diff --git a/examples/Test/Automated/003_CA_ORU_R01_CDPH_produced.hl7 b/examples/Test/Automated/Assertion/003_CA_ORU_R01_CDPH_produced.hl7 similarity index 100% rename from examples/Test/Automated/003_CA_ORU_R01_CDPH_produced.hl7 rename to examples/Test/Automated/Assertion/003_CA_ORU_R01_CDPH_produced.hl7 diff --git a/examples/Test/Automated/004_CA_ORU_R01_leading_zeroes.hl7 b/examples/Test/Automated/Assertion/004_CA_ORU_R01_leading_zeroes.hl7 similarity index 100% rename from examples/Test/Automated/004_CA_ORU_R01_leading_zeroes.hl7 rename to examples/Test/Automated/Assertion/004_CA_ORU_R01_leading_zeroes.hl7 diff --git a/examples/Test/Automated/005_CA_ORU_R01_no_leading_zeroes.hl7 b/examples/Test/Automated/Assertion/005_CA_ORU_R01_no_leading_zeroes.hl7 similarity index 100% rename from examples/Test/Automated/005_CA_ORU_R01_no_leading_zeroes.hl7 rename to examples/Test/Automated/Assertion/005_CA_ORU_R01_no_leading_zeroes.hl7 diff --git a/examples/Test/Automated/006_CA_ORU_R01_LOINC.hl7 b/examples/Test/Automated/Assertion/006_CA_ORU_R01_LOINC.hl7 similarity index 100% rename from examples/Test/Automated/006_CA_ORU_R01_LOINC.hl7 rename to examples/Test/Automated/Assertion/006_CA_ORU_R01_LOINC.hl7 diff --git a/examples/Test/Automated/007_CA_ORU_R01_PLT.hl7 b/examples/Test/Automated/Assertion/007_CA_ORU_R01_PLT.hl7 similarity index 100% rename from examples/Test/Automated/007_CA_ORU_R01_PLT.hl7 rename to examples/Test/Automated/Assertion/007_CA_ORU_R01_PLT.hl7 diff --git a/examples/Test/Automated/008_ORU_R01_micro_character_encoding.hl7 b/examples/Test/Automated/Assertion/008_ORU_R01_micro_character_encoding.hl7 similarity index 100% rename from examples/Test/Automated/008_ORU_R01_micro_character_encoding.hl7 rename to examples/Test/Automated/Assertion/008_ORU_R01_micro_character_encoding.hl7 diff --git a/examples/Test/Automated/009_CA_ORU_R01_remove_99717-5_OBX.hl7 b/examples/Test/Automated/Assertion/009_CA_ORU_R01_remove_99717-5_OBX.hl7 similarity index 100% rename from examples/Test/Automated/009_CA_ORU_R01_remove_99717-5_OBX.hl7 rename to examples/Test/Automated/Assertion/009_CA_ORU_R01_remove_99717-5_OBX.hl7 diff --git a/examples/Test/Automated/010_LA_ORU_R01_NBS_0_initial_obr_flatten_example_1.hl7 b/examples/Test/Automated/Assertion/010_LA_ORU_R01_NBS_0_initial_obr_flatten_example_1.hl7 similarity index 100% rename from examples/Test/Automated/010_LA_ORU_R01_NBS_0_initial_obr_flatten_example_1.hl7 rename to examples/Test/Automated/Assertion/010_LA_ORU_R01_NBS_0_initial_obr_flatten_example_1.hl7 diff --git a/examples/Test/Automated/README.md b/examples/Test/Automated/Assertion/README.md similarity index 96% rename from examples/Test/Automated/README.md rename to examples/Test/Automated/Assertion/README.md index 122330276..c7a01e231 100644 --- a/examples/Test/Automated/README.md +++ b/examples/Test/Automated/Assertion/README.md @@ -1,5 +1,5 @@ This folder contains the HL7 sample files that are used in the automated ReportStream -integration tests. The [automated-staging-test-submit.yml](/.github/workflows/staging-test-submit.yml) +integration tests. The [automated-staging-test-submit.yml](/.github/workflows/automated-staging-test-submit.yml) Github workflow that runs daily will grab these files and send them to ReportStream in staging. The files are expected to go through the whole flow and to be delivered to an Azure blob container that will later be used by the diff --git a/examples/Test/GoldenCopy/Expected/001_ORU_R01_golden_copy_expected_acylc_1.fhir b/examples/Test/Automated/GoldenCopy/Expected/001_ORU_R01_golden_copy_expected_acylc_1.fhir similarity index 100% rename from examples/Test/GoldenCopy/Expected/001_ORU_R01_golden_copy_expected_acylc_1.fhir rename to examples/Test/Automated/GoldenCopy/Expected/001_ORU_R01_golden_copy_expected_acylc_1.fhir diff --git a/examples/Test/GoldenCopy/Expected/002_ORU_R01_golden_copy_expected_acylc_2.fhir b/examples/Test/Automated/GoldenCopy/Expected/002_ORU_R01_golden_copy_expected_acylc_2.fhir similarity index 100% rename from examples/Test/GoldenCopy/Expected/002_ORU_R01_golden_copy_expected_acylc_2.fhir rename to examples/Test/Automated/GoldenCopy/Expected/002_ORU_R01_golden_copy_expected_acylc_2.fhir diff --git a/examples/Test/GoldenCopy/Expected/003_ORU_R01_golden_copy_expected_aa_unusual.fhir b/examples/Test/Automated/GoldenCopy/Expected/003_ORU_R01_golden_copy_expected_aa_unusual.fhir similarity index 100% rename from examples/Test/GoldenCopy/Expected/003_ORU_R01_golden_copy_expected_aa_unusual.fhir rename to examples/Test/Automated/GoldenCopy/Expected/003_ORU_R01_golden_copy_expected_aa_unusual.fhir diff --git a/examples/Test/GoldenCopy/Expected/004_ORU_R01_golden_copy_expected_in_range.fhir b/examples/Test/Automated/GoldenCopy/Expected/004_ORU_R01_golden_copy_expected_in_range.fhir similarity index 100% rename from examples/Test/GoldenCopy/Expected/004_ORU_R01_golden_copy_expected_in_range.fhir rename to examples/Test/Automated/GoldenCopy/Expected/004_ORU_R01_golden_copy_expected_in_range.fhir diff --git a/examples/Test/GoldenCopy/Expected/005_ORU_R01_golden_copy_expected_out_of_range.fhir b/examples/Test/Automated/GoldenCopy/Expected/005_ORU_R01_golden_copy_expected_out_of_range.fhir similarity index 100% rename from examples/Test/GoldenCopy/Expected/005_ORU_R01_golden_copy_expected_out_of_range.fhir rename to examples/Test/Automated/GoldenCopy/Expected/005_ORU_R01_golden_copy_expected_out_of_range.fhir diff --git a/examples/Test/GoldenCopy/Expected/006_ORU_R01_golden_copy_expected_sma_incomplete.fhir b/examples/Test/Automated/GoldenCopy/Expected/006_ORU_R01_golden_copy_expected_sma_incomplete.fhir similarity index 100% rename from examples/Test/GoldenCopy/Expected/006_ORU_R01_golden_copy_expected_sma_incomplete.fhir rename to examples/Test/Automated/GoldenCopy/Expected/006_ORU_R01_golden_copy_expected_sma_incomplete.fhir diff --git a/examples/Test/GoldenCopy/Input/001_ORU_R01_golden_copy_input_acylc_1.hl7 b/examples/Test/Automated/GoldenCopy/Input/001_ORU_R01_golden_copy_input_acylc_1.hl7 similarity index 100% rename from examples/Test/GoldenCopy/Input/001_ORU_R01_golden_copy_input_acylc_1.hl7 rename to examples/Test/Automated/GoldenCopy/Input/001_ORU_R01_golden_copy_input_acylc_1.hl7 diff --git a/examples/Test/GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 b/examples/Test/Automated/GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 similarity index 100% rename from examples/Test/GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 rename to examples/Test/Automated/GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 diff --git a/examples/Test/GoldenCopy/Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 b/examples/Test/Automated/GoldenCopy/Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 similarity index 100% rename from examples/Test/GoldenCopy/Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 rename to examples/Test/Automated/GoldenCopy/Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 diff --git a/examples/Test/GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 b/examples/Test/Automated/GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 similarity index 100% rename from examples/Test/GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 rename to examples/Test/Automated/GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 diff --git a/examples/Test/GoldenCopy/Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 b/examples/Test/Automated/GoldenCopy/Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 similarity index 100% rename from examples/Test/GoldenCopy/Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 rename to examples/Test/Automated/GoldenCopy/Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 diff --git a/examples/Test/GoldenCopy/Input/006_ORU_R01_golden_copy_input_sma_incomplete.hl7 b/examples/Test/Automated/GoldenCopy/Input/006_ORU_R01_golden_copy_input_sma_incomplete.hl7 similarity index 100% rename from examples/Test/GoldenCopy/Input/006_ORU_R01_golden_copy_input_sma_incomplete.hl7 rename to examples/Test/Automated/GoldenCopy/Input/006_ORU_R01_golden_copy_input_sma_incomplete.hl7 diff --git a/examples/Test/GoldenCopy/README.md b/examples/Test/Automated/GoldenCopy/README.md similarity index 97% rename from examples/Test/GoldenCopy/README.md rename to examples/Test/Automated/GoldenCopy/README.md index bf104ae6b..74cee7714 100644 --- a/examples/Test/GoldenCopy/README.md +++ b/examples/Test/Automated/GoldenCopy/README.md @@ -1,5 +1,5 @@ This folder contains the HL7 sample files that are used in the Golden Copy ReportStream -integration tests. The [golden-copy-staging-test-submit.yml](/.github/workflows/staging-test-submit.yml) +integration tests. The [golden-copy-staging-test-submit.yml](/.github/workflows/automated-staging-test-submit.yml) Github workflow that runs daily will grab these files and send them to ReportStream in staging. The files are expected to go through the whole flow and to be delivered to an Azure blob container that will later be used by the From 7a13855d735787e15cc6e38718684628974399b2 Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Mon, 23 Dec 2024 14:40:26 -0700 Subject: [PATCH 45/61] fix file changes Co-authored-by: James Herr Co-authored-by: basiliskus <541149+basiliskus@users.noreply.github.com> --- .../automated-staging-test-submit.yml | 18 +++++++++--------- 1 file changed, 9 insertions(+), 9 deletions(-) diff --git a/.github/workflows/automated-staging-test-submit.yml b/.github/workflows/automated-staging-test-submit.yml index 51c6527a4..095db5807 100644 --- a/.github/workflows/automated-staging-test-submit.yml +++ b/.github/workflows/automated-staging-test-submit.yml @@ -1,4 +1,4 @@ -name: Staging Test - Submit Messages +name: Automated Staging Test - Submit Messages on: schedule: @@ -45,14 +45,14 @@ jobs: "$host/api/token" | jq -r ".access_token") for file in $(pwd)/examples/Test/Automated/**/*.hl7; do - echo "Sending $file" - curl \ - --header "Content-Type: application/hl7-v2" \ - --header "Client: $client_id.$client_sender" \ - --header "Authorization: Bearer $token" \ - --data-binary "@$file" \ - --silent \ - "$host/api/waters" + echo "Sending $file" + curl \ + --header "Content-Type: application/hl7-v2" \ + --header "Client: $client_id.$client_sender" \ + --header "Authorization: Bearer $token" \ + --data-binary "@$file" \ + --silent \ + "$host/api/waters" done - name: Clean up private key From 8ca33372c88e49e74f9b1cb8a8bb4b94f07cdb3a Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Mon, 23 Dec 2024 14:51:55 -0700 Subject: [PATCH 46/61] change file path Co-authored-by: James Herr Co-authored-by: basiliskus <541149+basiliskus@users.noreply.github.com> --- .github/workflows/automated-staging-test-submit.yml | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/.github/workflows/automated-staging-test-submit.yml b/.github/workflows/automated-staging-test-submit.yml index 095db5807..17e3008fb 100644 --- a/.github/workflows/automated-staging-test-submit.yml +++ b/.github/workflows/automated-staging-test-submit.yml @@ -44,7 +44,7 @@ jobs: --silent \ "$host/api/token" | jq -r ".access_token") - for file in $(pwd)/examples/Test/Automated/**/*.hl7; do + for file in $(pwd)/examples/Test/Automated/**/*/*.hl7;; do echo "Sending $file" curl \ --header "Content-Type: application/hl7-v2" \ From 5086197eee92ac96476ea489e17a18131ad4626a Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Mon, 23 Dec 2024 14:53:05 -0700 Subject: [PATCH 47/61] remove semi colon Co-authored-by: basiliskus <541149+basiliskus@users.noreply.github.com> --- .github/workflows/automated-staging-test-submit.yml | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/.github/workflows/automated-staging-test-submit.yml b/.github/workflows/automated-staging-test-submit.yml index 17e3008fb..3e3350c4f 100644 --- a/.github/workflows/automated-staging-test-submit.yml +++ b/.github/workflows/automated-staging-test-submit.yml @@ -44,7 +44,7 @@ jobs: --silent \ "$host/api/token" | jq -r ".access_token") - for file in $(pwd)/examples/Test/Automated/**/*/*.hl7;; do + for file in $(pwd)/examples/Test/Automated/**/*/*.hl7; do echo "Sending $file" curl \ --header "Content-Type: application/hl7-v2" \ From 85b11b620a3009dcc507606e9743068d35dad3a0 Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Mon, 23 Dec 2024 14:57:18 -0700 Subject: [PATCH 48/61] mess with pathing regex Co-authored-by: basiliskus <541149+basiliskus@users.noreply.github.com> --- .github/workflows/automated-staging-test-submit.yml | 3 ++- 1 file changed, 2 insertions(+), 1 deletion(-) diff --git a/.github/workflows/automated-staging-test-submit.yml b/.github/workflows/automated-staging-test-submit.yml index 3e3350c4f..77461cf33 100644 --- a/.github/workflows/automated-staging-test-submit.yml +++ b/.github/workflows/automated-staging-test-submit.yml @@ -28,6 +28,7 @@ jobs: - name: Send HL7 sample messages to staging RS run: | + shopt -s globstar host=https://staging.prime.cdc.gov:443 client_id=flexion client_sender=simulated-sender @@ -44,7 +45,7 @@ jobs: --silent \ "$host/api/token" | jq -r ".access_token") - for file in $(pwd)/examples/Test/Automated/**/*/*.hl7; do + for file in $(pwd)/examples/Test/Automated/**/*.hl7; do echo "Sending $file" curl \ --header "Content-Type: application/hl7-v2" \ From 17a5382923fd672b57a42ec69187128f5a406a49 Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Tue, 24 Dec 2024 09:51:33 -0700 Subject: [PATCH 49/61] correct naming in workflow --- .github/workflows/automated-staging-test-run.yml | 2 +- .github/workflows/golden-copy-staging-test-run.yml | 4 ++-- 2 files changed, 3 insertions(+), 3 deletions(-) diff --git a/.github/workflows/automated-staging-test-run.yml b/.github/workflows/automated-staging-test-run.yml index 493e9b24c..58b7b6118 100644 --- a/.github/workflows/automated-staging-test-run.yml +++ b/.github/workflows/automated-staging-test-run.yml @@ -6,7 +6,7 @@ on: workflow_dispatch: jobs: - send_files: + test_files: runs-on: ubuntu-latest steps: diff --git a/.github/workflows/golden-copy-staging-test-run.yml b/.github/workflows/golden-copy-staging-test-run.yml index af5ef38a6..4c3cfb509 100644 --- a/.github/workflows/golden-copy-staging-test-run.yml +++ b/.github/workflows/golden-copy-staging-test-run.yml @@ -6,13 +6,13 @@ on: workflow_dispatch: jobs: - send_files: + test_files: runs-on: ubuntu-latest steps: - name: Call staging-test-run.yml uses: ./.github/workflows/staging-test-run_reusable.yml with: - FILE_PATH: '../examples/Test/GoldenCopy/Expected/' + FILE_PATH: '../examples/Test/Automated/GoldenCopy/Expected/' NAME: 'Golden Copy' TEST_TYPE: 'goldenCopyTest' From 77d9c71cd821e83a60f3a982c76deefcbcc7959c Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Tue, 24 Dec 2024 10:08:02 -0700 Subject: [PATCH 50/61] use correct inputs syntax --- .github/workflows/staging-test-run_reusable.yml | 7 +++---- 1 file changed, 3 insertions(+), 4 deletions(-) diff --git a/.github/workflows/staging-test-run_reusable.yml b/.github/workflows/staging-test-run_reusable.yml index e12a31404..f1987f35e 100644 --- a/.github/workflows/staging-test-run_reusable.yml +++ b/.github/workflows/staging-test-run_reusable.yml @@ -27,10 +27,9 @@ jobs: - name: Run automated tests env: AZURE_STORAGE_CONNECTION_STRING: ${{ secrets.AUTOMATED_TEST_AZURE_STORAGE_CONNECTION_STRING }} - LOCAL_FILE_PATH: ${{ github.event.inputs.FILE_PATH }} + LOCAL_FILE_PATH: ${{ inputs.FILE_PATH }} run: | - ./gradlew rs-e2e:clean rs-e2e:${{ github.event.inputs.TEST_TYPE }} - done + ./gradlew rs-e2e:clean rs-e2e:${{ inputs.TEST_TYPE }} - name: Send slack notification on test failure if: failure() @@ -39,4 +38,4 @@ jobs: webhook: ${{ secrets.SLACK_WEBHOOK_URL }} webhook-type: incoming-webhook payload: | - text: "${{ github.event.inputs.NAME }} Staging RS Integration Test Failed!: https://github.com/CDCgov/trusted-intermediary/actions/runs/${{ github.run_id }}" + text: "${{ inputs.NAME }} Staging RS Integration Test Failed!: https://github.com/CDCgov/trusted-intermediary/actions/runs/${{ github.run_id }}" From b67cd88bf957fd73cfd9edea9e3eebe4269700ec Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Tue, 24 Dec 2024 10:19:22 -0700 Subject: [PATCH 51/61] workflow fixes --- .github/workflows/automated-staging-test-run.yml | 16 ++++++---------- .../workflows/golden-copy-staging-test-run.yml | 16 ++++++---------- .github/workflows/staging-test-run_reusable.yml | 3 +++ 3 files changed, 15 insertions(+), 20 deletions(-) diff --git a/.github/workflows/automated-staging-test-run.yml b/.github/workflows/automated-staging-test-run.yml index 58b7b6118..5a0f2c27d 100644 --- a/.github/workflows/automated-staging-test-run.yml +++ b/.github/workflows/automated-staging-test-run.yml @@ -6,13 +6,9 @@ on: workflow_dispatch: jobs: - test_files: - runs-on: ubuntu-latest - - steps: - - name: Call staging-test-run.yml - uses: ./.github/workflows/staging-test-run_reusable.yml - with: - FILE_PATH: '../examples/Test/Automated/' - NAME: 'Automated' - TEST_TYPE: 'automatedTest' + call-staging-test-run: + uses: ./.github/workflows/staging-test-run_reusable.yml + with: + FILE_PATH: '../examples/Test/Automated/' + NAME: 'Automated' + TEST_TYPE: 'automatedTest' diff --git a/.github/workflows/golden-copy-staging-test-run.yml b/.github/workflows/golden-copy-staging-test-run.yml index 4c3cfb509..eb27dfa4f 100644 --- a/.github/workflows/golden-copy-staging-test-run.yml +++ b/.github/workflows/golden-copy-staging-test-run.yml @@ -6,13 +6,9 @@ on: workflow_dispatch: jobs: - test_files: - runs-on: ubuntu-latest - - steps: - - name: Call staging-test-run.yml - uses: ./.github/workflows/staging-test-run_reusable.yml - with: - FILE_PATH: '../examples/Test/Automated/GoldenCopy/Expected/' - NAME: 'Golden Copy' - TEST_TYPE: 'goldenCopyTest' + call-staging-test-run: + uses: ./.github/workflows/staging-test-run_reusable.yml + with: + FILE_PATH: '../examples/Test/Automated/GoldenCopy/Expected/' + NAME: 'Golden Copy' + TEST_TYPE: 'goldenCopyTest' diff --git a/.github/workflows/staging-test-run_reusable.yml b/.github/workflows/staging-test-run_reusable.yml index f1987f35e..b7f4c2181 100644 --- a/.github/workflows/staging-test-run_reusable.yml +++ b/.github/workflows/staging-test-run_reusable.yml @@ -7,14 +7,17 @@ on: type: string description: The e2e test to run required: true + default: 'automatedTest' NAME: type: string description: The name of test required: true + default: 'Automated' FILE_PATH: type: string description: The path to local files required: true + default: '../examples/Test/Automated/' jobs: test_files: From 714356296cdeb573108230b97344a2e4220b1f9e Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Tue, 24 Dec 2024 10:35:54 -0700 Subject: [PATCH 52/61] pass secrets to workflow --- .github/workflows/automated-staging-test-run.yml | 1 + .github/workflows/golden-copy-staging-test-run.yml | 1 + .github/workflows/staging-test-run_reusable.yml | 5 +++++ 3 files changed, 7 insertions(+) diff --git a/.github/workflows/automated-staging-test-run.yml b/.github/workflows/automated-staging-test-run.yml index 5a0f2c27d..222061f42 100644 --- a/.github/workflows/automated-staging-test-run.yml +++ b/.github/workflows/automated-staging-test-run.yml @@ -12,3 +12,4 @@ jobs: FILE_PATH: '../examples/Test/Automated/' NAME: 'Automated' TEST_TYPE: 'automatedTest' + secrets: inherit # pragma: allowlist secret diff --git a/.github/workflows/golden-copy-staging-test-run.yml b/.github/workflows/golden-copy-staging-test-run.yml index eb27dfa4f..c1f079196 100644 --- a/.github/workflows/golden-copy-staging-test-run.yml +++ b/.github/workflows/golden-copy-staging-test-run.yml @@ -12,3 +12,4 @@ jobs: FILE_PATH: '../examples/Test/Automated/GoldenCopy/Expected/' NAME: 'Golden Copy' TEST_TYPE: 'goldenCopyTest' + secrets: inherit # pragma: allowlist secret diff --git a/.github/workflows/staging-test-run_reusable.yml b/.github/workflows/staging-test-run_reusable.yml index b7f4c2181..bfbbbdb11 100644 --- a/.github/workflows/staging-test-run_reusable.yml +++ b/.github/workflows/staging-test-run_reusable.yml @@ -18,6 +18,11 @@ on: description: The path to local files required: true default: '../examples/Test/Automated/' + secrets: + AUTOMATED_TEST_AZURE_STORAGE_CONNECTION_STRING: + required: true + SLACK_WEBHOOK_URL: + required: true jobs: test_files: From c87d402bd20fb45463fabdd8d37fa58bf9bd4763 Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Tue, 24 Dec 2024 10:41:52 -0700 Subject: [PATCH 53/61] fix file path and exclude from test --- .github/workflows/automated-staging-test-run.yml | 2 +- .github/workflows/staging-test-run_reusable.yml | 2 +- rs-e2e/build.gradle | 1 + 3 files changed, 3 insertions(+), 2 deletions(-) diff --git a/.github/workflows/automated-staging-test-run.yml b/.github/workflows/automated-staging-test-run.yml index 222061f42..2027aa78f 100644 --- a/.github/workflows/automated-staging-test-run.yml +++ b/.github/workflows/automated-staging-test-run.yml @@ -9,7 +9,7 @@ jobs: call-staging-test-run: uses: ./.github/workflows/staging-test-run_reusable.yml with: - FILE_PATH: '../examples/Test/Automated/' + FILE_PATH: '../examples/Test/Automated/Assertion/' NAME: 'Automated' TEST_TYPE: 'automatedTest' secrets: inherit # pragma: allowlist secret diff --git a/.github/workflows/staging-test-run_reusable.yml b/.github/workflows/staging-test-run_reusable.yml index bfbbbdb11..18b847ea8 100644 --- a/.github/workflows/staging-test-run_reusable.yml +++ b/.github/workflows/staging-test-run_reusable.yml @@ -17,7 +17,7 @@ on: type: string description: The path to local files required: true - default: '../examples/Test/Automated/' + default: '../examples/Test/Automated/Assertion/' secrets: AUTOMATED_TEST_AZURE_STORAGE_CONNECTION_STRING: required: true diff --git a/rs-e2e/build.gradle b/rs-e2e/build.gradle index 5f45c8e5d..c0bd1166d 100644 --- a/rs-e2e/build.gradle +++ b/rs-e2e/build.gradle @@ -31,6 +31,7 @@ dependencies { tasks.named('test') { useJUnitPlatform() exclude '**/AutomatedTest.*' + exclude '**/GoldenCopyTest.*' } task automatedTest(type: Test) { From e6e7fbd4aec1f038b7f66faf2f279b875180e9de Mon Sep 17 00:00:00 2001 From: Bella Luz Quintero Date: Tue, 24 Dec 2024 15:09:30 -0700 Subject: [PATCH 54/61] remove incorrect expected files and replace input files --- ..._ORU_R01_golden_copy_expected_acylc_1.fhir | 1 - ..._ORU_R01_golden_copy_expected_acylc_2.fhir | 1 - ...U_R01_golden_copy_expected_aa_unusual.fhir | 1 - ...ORU_R01_golden_copy_expected_in_range.fhir | 1 - ...R01_golden_copy_expected_out_of_range.fhir | 1 - ...1_golden_copy_expected_sma_incomplete.fhir | 1 - ..._R01_CDPH_UCSD_189688314_pre_TI_TC_004.hl7 | 1 + .../001_ORU_R01_golden_copy_input_acylc_1.hl7 | 143 ------------------ ..._R01_CDPH_UCSD_189693889_pre_TI_TC002B.hl7 | 1 + .../002_ORU_R01_golden_copy_input_acylc_2.hl7 | 142 ----------------- ...U_R01_CDPH_UCSD_189671588_pre_TI_TC001.hl7 | 1 + ...3_ORU_R01_golden_copy_input_aa_unusual.hl7 | 142 ----------------- ...U_R01_CDPH_UCSD_189700664_pre_TI_TC000.hl7 | 1 + ...004_ORU_R01_golden_copy_input_in_range.hl7 | 142 ----------------- ..._R01_CDPH_UCSD_189693889_pre_TI_TC002C.hl7 | 1 + ...ORU_R01_golden_copy_input_out_of_range.hl7 | 142 ----------------- ..._R01_CDPH_UCSD_189716938_pre_TI_TC002A.hl7 | 1 + ...U_R01_golden_copy_input_sma_incomplete.hl7 | 141 ----------------- ..._UCSD_189717091_80015955_pre_TI_TC007A.hl7 | 1 + ...1_CDPH_UCSD_MRN_80015955_pre_TI_TC007B.hl7 | 1 + ...SD_MRN_80009320_pre_TI_TC001_Corrected.hl7 | 1 + ...01_CDPH_UCSD_MRN_80015980_pre_TI_TC006.hl7 | 1 + ...01_CDPH_UCSD_MRN_80015981_pre_TI_TC008.hl7 | 1 + examples/Test/Automated/GoldenCopy/README.md | 11 -- 24 files changed, 11 insertions(+), 869 deletions(-) delete mode 100644 examples/Test/Automated/GoldenCopy/Expected/001_ORU_R01_golden_copy_expected_acylc_1.fhir delete mode 100644 examples/Test/Automated/GoldenCopy/Expected/002_ORU_R01_golden_copy_expected_acylc_2.fhir delete mode 100644 examples/Test/Automated/GoldenCopy/Expected/003_ORU_R01_golden_copy_expected_aa_unusual.fhir delete mode 100644 examples/Test/Automated/GoldenCopy/Expected/004_ORU_R01_golden_copy_expected_in_range.fhir delete mode 100644 examples/Test/Automated/GoldenCopy/Expected/005_ORU_R01_golden_copy_expected_out_of_range.fhir delete mode 100644 examples/Test/Automated/GoldenCopy/Expected/006_ORU_R01_golden_copy_expected_sma_incomplete.fhir create mode 100644 examples/Test/Automated/GoldenCopy/Input/001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004.hl7 delete mode 100644 examples/Test/Automated/GoldenCopy/Input/001_ORU_R01_golden_copy_input_acylc_1.hl7 create mode 100644 examples/Test/Automated/GoldenCopy/Input/002_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002B.hl7 delete mode 100644 examples/Test/Automated/GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 create mode 100644 examples/Test/Automated/GoldenCopy/Input/003_CA_ORU_R01_CDPH_UCSD_189671588_pre_TI_TC001.hl7 delete mode 100644 examples/Test/Automated/GoldenCopy/Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 create mode 100644 examples/Test/Automated/GoldenCopy/Input/004_CA_ORU_R01_CDPH_UCSD_189700664_pre_TI_TC000.hl7 delete mode 100644 examples/Test/Automated/GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 create mode 100644 examples/Test/Automated/GoldenCopy/Input/005_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002C.hl7 delete mode 100644 examples/Test/Automated/GoldenCopy/Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 create mode 100644 examples/Test/Automated/GoldenCopy/Input/006_CA_ORU_R01_CDPH_UCSD_189716938_pre_TI_TC002A.hl7 delete mode 100644 examples/Test/Automated/GoldenCopy/Input/006_ORU_R01_golden_copy_input_sma_incomplete.hl7 create mode 100644 examples/Test/Automated/GoldenCopy/Input/007_CA_ORU_R01_CDPH_UCSD_189717091_80015955_pre_TI_TC007A.hl7 create mode 100644 examples/Test/Automated/GoldenCopy/Input/008_CA_ORU_R01_CDPH_UCSD_MRN_80015955_pre_TI_TC007B.hl7 create mode 100644 examples/Test/Automated/GoldenCopy/Input/009_CA_ORU_R01_CDPH_UCSD_MRN_80009320_pre_TI_TC001_Corrected.hl7 create mode 100644 examples/Test/Automated/GoldenCopy/Input/010_CA_ORU_R01_CDPH_UCSD_MRN_80015980_pre_TI_TC006.hl7 create mode 100644 examples/Test/Automated/GoldenCopy/Input/011_CA_ORU_R01_CDPH_UCSD_MRN_80015981_pre_TI_TC008.hl7 diff --git a/examples/Test/Automated/GoldenCopy/Expected/001_ORU_R01_golden_copy_expected_acylc_1.fhir b/examples/Test/Automated/GoldenCopy/Expected/001_ORU_R01_golden_copy_expected_acylc_1.fhir deleted file mode 100644 index cb65a9201..000000000 --- a/examples/Test/Automated/GoldenCopy/Expected/001_ORU_R01_golden_copy_expected_acylc_1.fhir +++ /dev/null @@ -1 +0,0 @@ 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\\\\.br\\\\\\\\.br\\\\Methods and Limitations:\\\\.br\\\\\\\\.br\\\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\\\.br\\\\Attention Healthcare Provider:\\\\.br\\\\\\\\.br\\\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. 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\\\\.br\\\\\\\\.br\\\\Methods and Limitations:\\\\.br\\\\\\\\.br\\\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. 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Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. 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Staff at Stanford University Medical Center at (650) 724-8120. \\\\.br\\\\\\\\.br\\\\Methods and Limitations:\\\\.br\\\\\\\\.br\\\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. 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A repeat NBS specimen MUST be collected. \\\\.br\\\\\\\\.br\\\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Valley Children's Hospital at (559) 353-6416. \\\\.br\\\\\\\\.br\\\\Methods and Limitations:\\\\.br\\\\\\\\.br\\\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). 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b/examples/Test/Automated/GoldenCopy/Input/001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004.hl7 @@ -0,0 +1 @@ +MSH|^~\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241015054631||ORU^R01^ORU_R01|001|N|2.5.1 PID|1||80015867^^^&NPI^MR||CDPHTWO^GIRL MOMTWO^^^^^B||202410071025|F||2076-8^Native Hawaiian or Other Pacific Islander||||||||||||2186-5^Not Hispanic or Latino||N|1 NK1|1|CDPHTWO^MOMTWO|MTH^Mother|2 SECOND ST^^SAN DIEGO^CA^92121^USA||||||||||||20000202 ORC|RE|7371237714^FormNumber||189688314^HospOrdNumber||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|7371237714^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBR|2|7371237714^FormNumber||57128-1^Newborn Screening Report summary panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12427-3^Subsequent screen - for clarification of initial results (not by law or protocol)^LN|||N|||F|||20241015054631 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241015054631 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241015054631 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA12543-7^GALT^LN|||N|||F|||20241015054631 OBX|5|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|2|LA12533-8^CAH^LN|||N|||F|||20241015054631 OBX|6|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA12566-8^SCID^LN|||N|||F|||20241015054631 OBX|7|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|2|LA14037-8^GAA^LN|||N|||F|||20241015054631 OBX|8|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\CAH: An immediate referral to a CCS endocrine center or pediatric endocrinologist, for evaluation and additional testing, is strongly recommended. \.br\\.br\Pompe: Another dried blood specimen MUST be collected for this child. Call your Newborn Screening Coordinator for assistance. \.br\\.br\SCID: Another dried blood specimen MUST be collected for this child. Call your Newborn Screening Coordinator for assistance. \.br\\.br\Galactosemia: Additional testing is required to rule out disorder.�Call your Newborn Screening Coordinator for assistance. \.br\\.br\ATTENTION: THIS CHILD HAS TESTED POSITIVE FOR MORE THAN ONE TEST. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241015054631 OBX|9|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241015054631 OBR|3|7371237714^FormNumber||57717-1^Newborn screen card data panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241015054631 OBX|2|NM|8339-4^Birthweight^LN|1|3175|grams||N|||F|||20241015054631 OBX|3|TM|57715-5^Time of birth^LN|1|1025|||N|||F|||20241015054631 OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241015054631 OBX|5|NM|73806-2^Newborn age in hours^LN|1|25|hour(s)||N|||F|||20241015054631 OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241015054631 OBX|7|CE|67704-7^Feeding types^LN|1|LA4489-6^Unknown^LN|||N|||F|||20241015054631 OBX|8|TX|^^^99717-5^Accession Number^L|1|282-49-252/21-2024-21|||N|||F|||20241015054631 OBX|9|TX|62324-9^Post-discharge provider name^LN|1|DENISE COYLE|||N|||F|||20241015054631 OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241015054631 OBR|4|7371237714^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBR|5|7371237714^FormNumber||53261-4^Amino acid newborn screen panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241015054631 OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|�mol/L|<1000|N|||F|||20241015054631 OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241015054631 OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241015054631 OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|�mol/L|<230|N|||F|||20241015054631 OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241015054631 OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|�mol/L|<175|N|||F|||20241015054631 OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241015054631 OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|�mol/L|<680|N|||F|||20241015054631 OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|�mol/L|<6.1|N|||F|||20241015054631 OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|�mol/L|6.3-100|N|||F|||20241015054631 OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|�mol/L|5-49|N|||F|||20241015054631 OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241015054631 OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|�mol/L|<800|N|||F|||20241015054631 OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241015054631 OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|�mol/L|<63|N|||F|||20241015054631 OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241015054631 OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|�mol/L|<1500|N|||F|||20241015054631 OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015054631 OBR|6|7371237714^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015054631 OBR|7|7371237714^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|33|�mol/L|6.4-125|N|||F|||20241015054631 OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241015054631 OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|�mol/L|10-80|N|||F|||20241015054631 OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241015054631 OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|�mol/L|<0.95|N|||F|||20241015054631 OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|�mol/L|<0.45|N|||F|||20241015054631 OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241015054631 OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|�mol/L|<0.65|N|||F|||20241015054631 OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|�mol/L|<0.65|N|||F|||20241015054631 OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|�mol/L|<0.45|N|||F|||20241015054631 OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|�mol/L|<2|N|||F|||20241015054631 OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|�mol/L||N|||F|||20241015054631 OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|�mol/L|<1.2|N|||F|||20241015054631 OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|�mol/L|<0.9|N|||F|||20241015054631 OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241015054631 OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|�mol/L||N|||F|||20241015054631 OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|�mol/L|<0.2|N|||F|||20241015054631 OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|�mol/L|<12|N|||F|||20241015054631 OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|�mol/L|<1.4|N|||F|||20241015054631 OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241015054631 OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241015054631 OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|�mol/L|<3.5|N|||F|||20241015054631 OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|�mol/L|<7|N|||F|||20241015054631 OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|�mol/L||N|||F|||20241015054631 OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241015054631 OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241015054631 OBR|8|7371237714^FormNumber||57085-3^Organic acid newborn screen panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|�mol/L|<7.9|N|||F|||20241015054631 OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241015054631 OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|�mol/L|<0.48|N|||F|||20241015054631 OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|�mol/L|<1.7|N|||F|||20241015054631 OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|�mol/L|<0.95|N|||F|||20241015054631 OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241015054631 OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|�mol/L|<0.5|N|||F|||20241015054631 OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|�mol/L|<1.15|N|||F|||20241015054631 OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|�mol/L|<0.38|N|||F|||20241015054631 OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241015054631 OBR|9|7371237714^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241015054631 OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015054631 OBR|10|7371237714^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|305|nmol/L|<85|H|||F|||20241015054631 OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241015054631 OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241015054631 OBR|11|7371237714^FormNumber||54090-6^Thyroid newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241015054631 OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBR|12|7371237714^FormNumber||54079-9^Galactosemia newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|48.00|enzyme units|>50|L|||F|||20241015054631 OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241015054631 OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241015054631 OBR|13|7371237714^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241015054631 OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.�These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241015054631 OBR|14|7371237714^FormNumber||57087-9^Biotinidase newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241015054631 OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBR|15|7371237714^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|2|copies/�L|>18|L|||F|||20241015054631 OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA11884-6^Indeterminate^LN|||A|||F|||20241015054631 OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Incomplete|||A|||F|||20241015054631 OBR|16|7371237714^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA16205-9^Specimen unsatisfactory for at least one condition^LN|||A|||F|||20241015054631 OBX|2|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Incomplete|||A|||F|||20241015054631 OBR|17|7371237714^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|�mol/L/h|>=18.2|N|||F|||20241015054631 OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBR|18|7371237714^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241015054631 OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241015054631 OBR|19|7371237714^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|�mol/L/h|>=2.06|N|||F|||20241015054631 OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBR|20|7371237714^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241015054631 OBR|21|7371237714^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|�mol/L|<=3|N|||F|||20241015054631 OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|�mol/L||N|||F|||20241015054631 OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20241015054631 OBR|22|7371237714^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241015054631 OBR|23|7371237714^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|�mol/L|<0.47|N|||F|||20241015054631 diff --git a/examples/Test/Automated/GoldenCopy/Input/001_ORU_R01_golden_copy_input_acylc_1.hl7 b/examples/Test/Automated/GoldenCopy/Input/001_ORU_R01_golden_copy_input_acylc_1.hl7 deleted file mode 100644 index 1a235664a..000000000 --- a/examples/Test/Automated/GoldenCopy/Input/001_ORU_R01_golden_copy_input_acylc_1.hl7 +++ /dev/null @@ -1,143 +0,0 @@ -MSH|^~\\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^9413816^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241015050654||ORU^R01^ORU_R01|001|N|2.5.1 -PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** -NK1|1|*****PII REMOVED****** -ORC|RE|673678765^FormNumber||M17965^HospOrdNumber||||||||1477542173^BROOKS^STEWART^^^^^^^NPI|||||||||CEDARS-SINAI MEDICAL CENTER^^^^^^^^^R150|8700 BEVERLY BLVD^^W HOLLYWOOD^CA^90048-1804 -OBR|1|673678765^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410011420|||||||||||||||20241015050654|||F -OBR|2|673678765^FormNumber||57128-1^Newborn Screening Report summary panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241015050654 -OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241015050654 -OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241015050654 -OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241015050654 -OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241015050654 -OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - LONG BEACH MEMORIAL MEDICAL CENTER \\\3747 LONG BEACH BLVD, LONG BEACH, CA 90807-3309\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Acyl Carnitine Panel: An immediate referral to a CCS Metabolic Center is strongly recommended. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at UCLA Medical Center at (310) 826-4458. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241015050654 -OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241015050654 -OBR|3|673678765^FormNumber||57717-1^Newborn screen card data panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241015050654 -OBX|2|NM|8339-4^Birthweight^LN|1|4020|grams||N|||F|||20241015050654 -OBX|3|TM|57715-5^Time of birth^LN|1|1416|||N|||F|||20241015050654 -OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241015050654 -OBX|5|NM|73806-2^Newborn age in hours^LN|1|24|hour(s)||N|||F|||20241015050654 -OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241015050654 -OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241015050654 -OBX|8|CE|67704-7^Feeding types^LN|2|LA16915-3^Lactose formula^LN|||N|||F|||20241015050654 -OBX|9|TX|^^^99717-5^Accession Number^L|1|277-86-190/21-2024-32|||N|||F|||20241015050654 -OBX|10|TX|62324-9^Post-discharge provider name^LN|1|STEWART BROOKS|||N|||F|||20241015050654 -OBX|11|TX|62325-6^Post-discharge provider practice ID^LN|1|1477542173|||N|||F|||20241015050654 -OBX|12|TX|62327-2^Post-discharge provider practice address^LN|1|8700 BEVERLY BLVD W HOLLYWOOD CA 90048-1804 USA|||N|||F|||20241015050654 -OBR|4|673678765^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410011420|||||||||||||||20241015050654|||F -OBR|5|673678765^FormNumber||53261-4^Amino acid newborn screen panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|387|µmol/L||N|||F|||20241015050654 -OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|381|µmol/L|<1000|N|||F|||20241015050654 -OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|92.6|µmol/L||N|||F|||20241015050654 -OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.88595|{Ratio}|<4.3|N|||F|||20241015050654 -OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|86.8|µmol/L|<230|N|||F|||20241015050654 -OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.23|{Ratio}|<1.35|N|||F|||20241015050654 -OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|49.1|µmol/L|<175|N|||F|||20241015050654 -OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.09|{Ratio}|<2.6|N|||F|||20241015050654 -OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|45.1|µmol/L|<680|N|||F|||20241015050654 -OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.24|µmol/L|<6.1|N|||F|||20241015050654 -OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|16.8|µmol/L|6.3-100|N|||F|||20241015050654 -OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|20|µmol/L|5-49|N|||F|||20241015050654 -OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3.22|{Ratio}|<4.8|N|||F|||20241015050654 -OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|74|µmol/L|<800|N|||F|||20241015050654 -OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|3.76|{Ratio}||N|||F|||20241015050654 -OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|6|µmol/L|<63|N|||F|||20241015050654 -OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.08|{Ratio}|<1.9|N|||F|||20241015050654 -OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|118|µmol/L|<1500|N|||F|||20241015050654 -OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015050654 -OBR|6|673678765^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA11884-6^Indeterminate^LN|||A|||F|||20241015050654 -OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|This pattern of elevations is consistent with SCADD, IBCDD|||A|||F|||20241015050654 -OBR|7|673678765^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|34.3|µmol/L|6.4-125|N|||F|||20241015050654 -OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|5.93|{Ratio}|<70|N|||F|||20241015050654 -OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|33.2|µmol/L|10-80|N|||F|||20241015050654 -OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|1.29565|{Ratio}|<7.6|N|||F|||20241015050654 -OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.136|µmol/L|<0.95|N|||F|||20241015050654 -OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.150|µmol/L|<0.45|N|||F|||20241015050654 -OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.65|{Ratio}||N|||F|||20241015050654 -OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.221|µmol/L|<0.65|N|||F|||20241015050654 -OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.230|µmol/L|<0.65|N|||F|||20241015050654 -OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.088|µmol/L|<0.45|N|||F|||20241015050654 -OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.232|µmol/L|<2|N|||F|||20241015050654 -OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.20|µmol/L||N|||F|||20241015050654 -OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.342|µmol/L|<1.2|N|||F|||20241015050654 -OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.206|µmol/L|<0.9|N|||F|||20241015050654 -OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.02|{Ratio}||N|||F|||20241015050654 -OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.03|µmol/L||N|||F|||20241015050654 -OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.029|µmol/L|<0.2|N|||F|||20241015050654 -OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|4.14|µmol/L|<12|N|||F|||20241015050654 -OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.341|µmol/L|<1.4|N|||F|||20241015050654 -OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.049|µmol/L|<0.1|N|||F|||20241015050654 -OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01184|{Ratio}|<0.07|N|||F|||20241015050654 -OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|1.07|µmol/L|<3.5|N|||F|||20241015050654 -OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.65|µmol/L|<7|N|||F|||20241015050654 -OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.23|µmol/L||N|||F|||20241015050654 -OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.022|µmol/L|<0.1|N|||F|||20241015050654 -OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.053|µmol/L|<0.1|N|||F|||20241015050654 -OBR|8|673678765^FormNumber||57085-3^Organic acid newborn screen panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|2.3|µmol/L|<7.9|N|||F|||20241015050654 -OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.07|{Ratio}|<0.42|N|||F|||20241015050654 -OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.298|µmol/L|<0.48|N|||F|||20241015050654 -OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|1.73|µmol/L|<1.7|H|||F|||20241015050654 -OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.139|µmol/L|<0.95|N|||F|||20241015050654 -OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.06043|{Ratio}|<0.38|N|||F|||20241015050654 -OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.011|µmol/L|<0.5|N|||F|||20241015050654 -OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.306|µmol/L|<1.15|N|||F|||20241015050654 -OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.238|µmol/L|<0.38|N|||F|||20241015050654 -OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.79866|{Ratio}|>0.1|N|||F|||20241015050654 -OBR|9|673678765^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|18.10|ng/mL|<69|N|||F|||20241015050654 -OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 -OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015050654 -OBR|10|673678765^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00010.8|nmol/L|<85|N|||F|||20241015050654 -OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 -OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654 -OBR|11|673678765^FormNumber||54090-6^Thyroid newborn screening panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|NM|29575-8^Thyrotropin^LN|1|4.00|mIU/L|<29|N|||F|||20241015050654 -OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 -OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654 -OBR|12|673678765^FormNumber||54079-9^Galactosemia newborn screening panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|267.94|enzyme units|>50|N|||F|||20241015050654 -OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 -OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654 -OBR|13|673678765^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241015050654 -OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241015050654 -OBR|14|673678765^FormNumber||57087-9^Biotinidase newborn screening panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|44.16|ERU|>10|N|||F|||20241015050654 -OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 -OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654 -OBR|15|673678765^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|84|copies/µL|>18|N|||F|||20241015050654 -OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 -OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654 -OBR|16|673678765^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|6.97|µmol/L/h|>=1.51|N|||F|||20241015050654 -OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 -OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241015050654 -OBR|17|673678765^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|10.38|µmol/L/h|>=0.77|N|||F|||20241015050654 -OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 -OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654 -OBR|18|673678765^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241015050654 -OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 -OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241015050654 -OBR|19|673678765^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|27.61|µmol/L/h|>=2.75|N|||F|||20241015050654 -OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 -OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015050654 -OBR|20|673678765^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410011420|||||||||||||||20241015050654|||F -OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015050654 -OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241015050654 -OBR|21|673678765^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410011420|||||||||||||||20241015050654|||F -OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.04|µmol/L|<=3|N|||F|||20241015050654 -OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|391.37|µmol/L||N|||F|||20241015050654 -OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|2.66||<=6|N|||F|||20241015050654 -OBR|22|673678765^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410011420|||||||||||||||20241015050654|||F -OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241015050654 -OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241015050654 -OBR|23|673678765^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410011420|||||||||||||||20241015050654|||F -OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.246|µmol/L|<0.47|N|||F|||20241015050654 diff --git a/examples/Test/Automated/GoldenCopy/Input/002_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002B.hl7 b/examples/Test/Automated/GoldenCopy/Input/002_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002B.hl7 new file mode 100644 index 000000000..09e8c2ce4 --- /dev/null +++ b/examples/Test/Automated/GoldenCopy/Input/002_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002B.hl7 @@ -0,0 +1 @@ +MSH|^~\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241022024155||ORU^R01^ORU_R01|002|N|2.5.1 PID|1||80015887^^^&NPI^MR||CDPHTHREE^BOY B MOMTHREE^^^^^B|||M||2131-1^Other Race||||||||||||UNK^Unknown||Y|2 NK1|1|CDPHTHREE^MOMTHREE|MTH^Mother|3 3RD ST^^SAN DIEGO^CA^92126^USA|^^^^^858^2490007|||||||||||20031007 ORC|RE|7381238055^FormNumber||189693889^HospOrdNumber||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|7381238055^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBR|2|7381238055^FormNumber||57128-1^Newborn Screening Report summary panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241022024155 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241022024155 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241022024155 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA16207-5^Hemoglobinopathies^LN|||N|||F|||20241022024155 OBX|5|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|2|LA12537-9^CF^LN|||N|||F|||20241022024155 OBX|6|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241022024155 OBX|7|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\Amino Acid Panel: There was insufficient data to determine whether or not this newborn was at least 12 hours old when this specimen was collected. Testing of amino acids at less than 12 hours of age is not reliable for detecting certain metabolic disorder. \.br\\.br\Hb: An immediate referral to a CCS Sickle Cell Disease/Hemoglobinopathies Center is strongly recommended. \.br\\.br\Cystic Fibrosis (CF): An immediate referral to a CCS approved Cystic Fibrosis Center for evaluation and additional testing is strongly recommended. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Screen for CF based on IRT and the California CFTR DNA mutation panel which consists of the following mutations: 1078delT, 1288insTA, 1677delTA, 1717-1G>A, 1812-1G>A, 1898+1G>A, 1898+5G>T, 2055del9>A, 2105-2117del13insAGAAA, 2143delT, 2183AA>G, 2184delA, 2307insA, 2789+5G>A, 2869insG, 3120+1G>A, 3120G>A, 3199del6, 3272-26A>G, 3659delC, 3791delC, 3849+10kbC>T, 3876delA, 3905insT, 394delTT, 405+3A>C, 406-1G>A, 444delA, 621+1G>T, 663delT, 711+1G>T, 935delA, A455E, A559T, CFTRdel2,3(21kb), delF311, delF508, delI507, E60X, G178R, G330X, G542X, G551D, G85E, H199Y, K710X, L206W, M1101K, N1303K, P205S, Q493X, Q890X, Q98R, R1066C, R1158X, R1162X, R117C, R334W, R347H, R347P, R352Q, R553X, R560T, R75X, S1196X, S1255X, S492F, S549N, S549R(T>G), V520F, W1089X, W1204X(3743G>A), W1204X(3744G>A), W1282X, Y1092X(C>A), Y1092X(C>G), Y122X. California CFTR Mutation Panel was run at Stanford Health Care, Molecular Pathology Laboratory, 3375 Hillview Avenue, Palo Alto, CA 94304. Directors: James Zehnder, MD; Christian Kunder, MD, PhD; Carlos J. Suarez, MD; (650) 723-6574. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241022024155 OBX|8|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241022024155 OBR|3|7381238055^FormNumber||57717-1^Newborn screen card data panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241022024155 OBX|2|NM|8339-4^Birthweight^LN|1|2948|grams||N|||F|||20241022024155 OBX|3|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12412-5^Twins^LN|||N|||F|||20241022024155 OBX|4|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241022024155 OBX|5|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241022024155 OBX|6|TX|^^^99717-5^Accession Number^L|1|282-12-459/21-2024-21|||N|||F|||20241022024155 OBX|7|TX|62324-9^Post-discharge provider name^LN|1|MICHELLE LEFF|||N|||F|||20241022024155 OBX|8|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241022024155 OBR|4|7381238055^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBR|5|7381238055^FormNumber||53261-4^Amino acid newborn screen panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241022024155 OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|�mol/L|<1000|N|||F|||20241022024155 OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241022024155 OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241022024155 OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|�mol/L|<230|N|||F|||20241022024155 OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241022024155 OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|�mol/L|<175|N|||F|||20241022024155 OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241022024155 OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|�mol/L|<680|N|||F|||20241022024155 OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|�mol/L|<6.1|N|||F|||20241022024155 OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|�mol/L|6.3-100|N|||F|||20241022024155 OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|�mol/L|5-49|N|||F|||20241022024155 OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241022024155 OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|�mol/L|<800|N|||F|||20241022024155 OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241022024155 OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|�mol/L|<63|N|||F|||20241022024155 OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241022024155 OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|�mol/L|<1500|N|||F|||20241022024155 OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Collected Early. No Interpretation.|||A|||F|||20241022024155 OBR|6|7381238055^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241022024155 OBR|7|7381238055^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|33|�mol/L|6.4-125|N|||F|||20241022024155 OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241022024155 OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|�mol/L|10-80|N|||F|||20241022024155 OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241022024155 OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|�mol/L|<0.95|N|||F|||20241022024155 OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|�mol/L|<0.45|N|||F|||20241022024155 OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241022024155 OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|�mol/L|<0.65|N|||F|||20241022024155 OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|�mol/L|<0.65|N|||F|||20241022024155 OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|�mol/L|<0.45|N|||F|||20241022024155 OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|�mol/L|<2|N|||F|||20241022024155 OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|�mol/L||N|||F|||20241022024155 OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|�mol/L|<1.2|N|||F|||20241022024155 OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|�mol/L|<0.9|N|||F|||20241022024155 OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241022024155 OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|�mol/L||N|||F|||20241022024155 OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|�mol/L|<0.2|N|||F|||20241022024155 OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|�mol/L|<12|N|||F|||20241022024155 OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|�mol/L|<1.4|N|||F|||20241022024155 OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241022024155 OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241022024155 OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|�mol/L|<3.5|N|||F|||20241022024155 OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|�mol/L|<7|N|||F|||20241022024155 OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|�mol/L||N|||F|||20241022024155 OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241022024155 OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241022024155 OBR|8|7381238055^FormNumber||57085-3^Organic acid newborn screen panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|�mol/L|<7.9|N|||F|||20241022024155 OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241022024155 OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|�mol/L|<0.48|N|||F|||20241022024155 OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|�mol/L|<1.7|N|||F|||20241022024155 OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|�mol/L|<0.95|N|||F|||20241022024155 OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241022024155 OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|�mol/L|<0.5|N|||F|||20241022024155 OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|�mol/L|<1.15|N|||F|||20241022024155 OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|�mol/L|<0.38|N|||F|||20241022024155 OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241022024155 OBR|9|7381238055^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|72.00|ng/mL|<69|H|||F|||20241022024155 OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA11884-6^Indeterminate^LN|||A|||F|||20241022024155 OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Consistent with Cystic Fibrosis (delF508 and delI507 mutations)|||A|||F|||20241022024155 OBR|10|7381238055^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<85|N|||F|||20241022024155 OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241022024155 OBR|11|7381238055^FormNumber||54090-6^Thyroid newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241022024155 OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241022024155 OBR|12|7381238055^FormNumber||54079-9^Galactosemia newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|55.00|enzyme units|>50|N|||F|||20241022024155 OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241022024155 OBR|13|7381238055^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|F||||||F|||20241022024155 OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Consistent with Beta thalassemia major (Cooley's anemia).||||||F|||20241022024155 OBR|14|7381238055^FormNumber||57087-9^Biotinidase newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241022024155 OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241022024155 OBR|15|7381238055^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/�L|>18|N|||F|||20241022024155 OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241022024155 OBR|16|7381238055^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|�mol/L/h|>=18.2|N|||F|||20241022024155 OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241022024155 OBR|17|7381238055^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|�mol/L/h|>=18.2|N|||F|||20241022024155 OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241022024155 OBR|18|7381238055^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241022024155 OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241022024155 OBR|19|7381238055^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|�mol/L/h|>=2.06|N|||F|||20241022024155 OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241022024155 OBR|20|7381238055^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241022024155 OBR|21|7381238055^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|�mol/L|<=3|N|||F|||20241022024155 OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|�mol/L||N|||F|||20241022024155 OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20241022024155 OBR|22|7381238055^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241022024155 OBR|23|7381238055^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|�mol/L|<0.47|N|||F|||20241022024155 diff --git a/examples/Test/Automated/GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 b/examples/Test/Automated/GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 deleted file mode 100644 index 971a44185..000000000 --- a/examples/Test/Automated/GoldenCopy/Input/002_ORU_R01_golden_copy_input_acylc_2.hl7 +++ /dev/null @@ -1,142 +0,0 @@ -MSH|^~\\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^9413816^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241018050234||ORU^R01^ORU_R01|002|N|2.5.1 -PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** -NK1|1|*****PII REMOVED****** -ORC|RE|12345667867^FormNumber||S30500^HospOrdNumber||||||||1194257170^MAHMOOD^SARAH^^^^^^^NPI|||||||||CEDARS-SINAI MEDICAL CENTER^^^^^^^^^R150|8700 BEVERLY BLVD^^W HOLLYWOOD^CA^90048-1804 -OBR|1|12345667867^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410061300|||||||||||||||20241018050234|||F -OBR|2|12345667867^FormNumber||57128-1^Newborn Screening Report summary panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241018050234 -OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241018050234 -OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241018050234 -OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241018050234 -OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241018050234 -OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - LONG BEACH MEMORIAL MEDICAL CENTER \\\3747 LONG BEACH BLVD, LONG BEACH, CA 90807-3309\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Acyl Carnitine Panel: An immediate referral to a CCS Metabolic Center is strongly recommended. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at UCLA Medical Center at (310) 826-4458. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241018050234 -OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241018050234 -OBR|3|12345667867^FormNumber||57717-1^Newborn screen card data panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241018050234 -OBX|2|NM|8339-4^Birthweight^LN|1|3135|grams||N|||F|||20241018050234 -OBX|3|TM|57715-5^Time of birth^LN|1|1235|||N|||F|||20241018050234 -OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241018050234 -OBX|5|NM|73806-2^Newborn age in hours^LN|1|24|hour(s)||N|||F|||20241018050234 -OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241018050234 -OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241018050234 -OBX|8|TX|^^^99717-5^Accession Number^L|1|282-18-014/21-2024-32|||N|||F|||20241018050234 -OBX|9|TX|62324-9^Post-discharge provider name^LN|1|SARAH MAHMOOD|||N|||F|||20241018050234 -OBX|10|TX|62325-6^Post-discharge provider practice ID^LN|1|1194257170|||N|||F|||20241018050234 -OBX|11|TX|62327-2^Post-discharge provider practice address^LN|1|8700 BEVERLY BLVD W HOLLYWOOD CA 90048-1804 USA|||N|||F|||20241018050234 -OBR|4|12345667867^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410061300|||||||||||||||20241018050234|||F -OBR|5|12345667867^FormNumber||53261-4^Amino acid newborn screen panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|611|µmol/L||N|||F|||20241018050234 -OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|585|µmol/L|<1000|N|||F|||20241018050234 -OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|90.9|µmol/L||N|||F|||20241018050234 -OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.74808|{Ratio}|<4.3|N|||F|||20241018050234 -OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|86.9|µmol/L|<230|N|||F|||20241018050234 -OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.15|{Ratio}|<1.35|N|||F|||20241018050234 -OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|52.0|µmol/L|<175|N|||F|||20241018050234 -OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241018050234 -OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|69.0|µmol/L|<680|N|||F|||20241018050234 -OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.23|µmol/L|<6.1|N|||F|||20241018050234 -OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|22.5|µmol/L|6.3-100|N|||F|||20241018050234 -OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|14|µmol/L|5-49|N|||F|||20241018050234 -OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|2.28|{Ratio}|<4.8|N|||F|||20241018050234 -OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|68|µmol/L|<800|N|||F|||20241018050234 -OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|4.93|{Ratio}||N|||F|||20241018050234 -OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|6|µmol/L|<63|N|||F|||20241018050234 -OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.09|{Ratio}|<1.9|N|||F|||20241018050234 -OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|192|µmol/L|<1500|N|||F|||20241018050234 -OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050234 -OBR|6|12345667867^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA11884-6^Indeterminate^LN|||A|||F|||20241018050234 -OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|This pattern of elevations is consistent with SCADD, IBCDD|||A|||F|||20241018050234 -OBR|7|12345667867^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|26.6|µmol/L|6.4-125|N|||F|||20241018050234 -OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|3.27|{Ratio}|<70|N|||F|||20241018050234 -OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|29.2|µmol/L|10-80|N|||F|||20241018050234 -OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|2.13913|{Ratio}|<7.6|N|||F|||20241018050234 -OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.088|µmol/L|<0.95|N|||F|||20241018050234 -OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.084|µmol/L|<0.45|N|||F|||20241018050234 -OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.73|{Ratio}||N|||F|||20241018050234 -OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.172|µmol/L|<0.65|N|||F|||20241018050234 -OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.115|µmol/L|<0.65|N|||F|||20241018050234 -OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.050|µmol/L|<0.45|N|||F|||20241018050234 -OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.127|µmol/L|<2|N|||F|||20241018050234 -OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.12|µmol/L||N|||F|||20241018050234 -OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.333|µmol/L|<1.2|N|||F|||20241018050234 -OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.132|µmol/L|<0.9|N|||F|||20241018050234 -OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.13|{Ratio}||N|||F|||20241018050234 -OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.02|µmol/L||N|||F|||20241018050234 -OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.026|µmol/L|<0.2|N|||F|||20241018050234 -OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|6.19|µmol/L|<12|N|||F|||20241018050234 -OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.445|µmol/L|<1.4|N|||F|||20241018050234 -OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.045|µmol/L|<0.1|N|||F|||20241018050234 -OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00727|{Ratio}|<0.07|N|||F|||20241018050234 -OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|1.53|µmol/L|<3.5|N|||F|||20241018050234 -OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.96|µmol/L|<7|N|||F|||20241018050234 -OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.21|µmol/L||N|||F|||20241018050234 -OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.017|µmol/L|<0.1|N|||F|||20241018050234 -OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.036|µmol/L|<0.1|N|||F|||20241018050234 -OBR|8|12345667867^FormNumber||57085-3^Organic acid newborn screen panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|2.5|µmol/L|<7.9|N|||F|||20241018050234 -OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.09|{Ratio}|<0.42|N|||F|||20241018050234 -OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.246|µmol/L|<0.48|N|||F|||20241018050234 -OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|1.72|µmol/L|<1.7|H|||F|||20241018050234 -OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.115|µmol/L|<0.95|N|||F|||20241018050234 -OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.04600|{Ratio}|<0.38|N|||F|||20241018050234 -OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.008|µmol/L|<0.5|N|||F|||20241018050234 -OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.232|µmol/L|<1.15|N|||F|||20241018050234 -OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.180|µmol/L|<0.38|N|||F|||20241018050234 -OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.73171|{Ratio}|>0.1|N|||F|||20241018050234 -OBR|9|12345667867^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|21.20|ng/mL|<69|N|||F|||20241018050234 -OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 -OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050234 -OBR|10|12345667867^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00015.6|nmol/L|<85|N|||F|||20241018050234 -OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 -OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234 -OBR|11|12345667867^FormNumber||54090-6^Thyroid newborn screening panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|NM|29575-8^Thyrotropin^LN|1|9.50|mIU/L|<29|N|||F|||20241018050234 -OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 -OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234 -OBR|12|12345667867^FormNumber||54079-9^Galactosemia newborn screening panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|262.95|enzyme units|>50|N|||F|||20241018050234 -OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 -OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234 -OBR|13|12345667867^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241018050234 -OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241018050234 -OBR|14|12345667867^FormNumber||57087-9^Biotinidase newborn screening panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|49.77|ERU|>10|N|||F|||20241018050234 -OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 -OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234 -OBR|15|12345667867^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|197|copies/µL|>18|N|||F|||20241018050234 -OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 -OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234 -OBR|16|12345667867^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.29|µmol/L/h|>=1.47|N|||F|||20241018050234 -OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 -OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241018050234 -OBR|17|12345667867^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|13.01|µmol/L/h|>=0.82|N|||F|||20241018050234 -OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 -OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234 -OBR|18|12345667867^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241018050234 -OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 -OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241018050234 -OBR|19|12345667867^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|27.84|µmol/L/h|>=2.79|N|||F|||20241018050234 -OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 -OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050234 -OBR|20|12345667867^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410061300|||||||||||||||20241018050234|||F -OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050234 -OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241018050234 -OBR|21|12345667867^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410061300|||||||||||||||20241018050234|||F -OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|0.97|µmol/L|<=3|N|||F|||20241018050234 -OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|496.63|µmol/L||N|||F|||20241018050234 -OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|1.95||<=6|N|||F|||20241018050234 -OBR|22|12345667867^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410061300|||||||||||||||20241018050234|||F -OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241018050234 -OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241018050234 -OBR|23|12345667867^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410061300|||||||||||||||20241018050234|||F -OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.349|µmol/L|<0.47|N|||F|||20241018050234 diff --git a/examples/Test/Automated/GoldenCopy/Input/003_CA_ORU_R01_CDPH_UCSD_189671588_pre_TI_TC001.hl7 b/examples/Test/Automated/GoldenCopy/Input/003_CA_ORU_R01_CDPH_UCSD_189671588_pre_TI_TC001.hl7 new file mode 100644 index 000000000..fcff71fd7 --- /dev/null +++ b/examples/Test/Automated/GoldenCopy/Input/003_CA_ORU_R01_CDPH_UCSD_189671588_pre_TI_TC001.hl7 @@ -0,0 +1 @@ +MSH|^~\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20240930011140||ORU^R01^ORU_R01|003|N|2.5.1 PID|1||80009320^^^&NPI^MR||NEWBORNSCREEN^BOY RED^^^^^B||202408150826|M||1002-5^American Indian or Alaska Native||||||||||||2186-5^Not Hispanic or Latino||N|1 NK1|1|NEWBORNSCREEN^RED|MTH^Mother|9560 TOWNE CENTRE DR^^SAN DIEGO^CA^92121-1972^USA|^^^^^619^1234567|||||||||||19850426 ORC|RE|7341237093^FormNumber||189671588^HospOrdNumber||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|7341237093^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBR|2|7341237093^FormNumber||57128-1^Newborn Screening Report summary panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20240930011140 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20240930011140 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA12428-1^All screening is in range for the conditions tested^LN|||N|||F|||20240930011140 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20240930011140 OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20240930011140 OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\Acyl Carnitine Panel: Reference Ranges for acylcarnitines are based on specimens collected on newborns who are less than 10 days old. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20240930011140 OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20240930011140 OBR|3|7341237093^FormNumber||57717-1^Newborn screen card data panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20240930011140 OBX|2|NM|8339-4^Birthweight^LN|1|3084|grams||N|||F|||20240930011140 OBX|3|TM|57715-5^Time of birth^LN|1|0826|||N|||F|||20240930011140 OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20240930011140 OBX|5|NM|73806-2^Newborn age in hours^LN|1|46|day(s)||N|||F|||20240930011140 OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20240930011140 OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20240930011140 OBX|8|TX|^^^99717-5^Accession Number^L|1|271-39-356/21-2024-21|||N|||F|||20240930011140 OBX|9|TX|62324-9^Post-discharge provider name^LN|1|MARVIN ZAGULI|||N|||F|||20240930011140 OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20240930011140 OBR|4|7341237093^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBR|5|7341237093^FormNumber||53261-4^Amino acid newborn screen panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20240930011140 OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|�mol/L|<1000|N|||F|||20240930011140 OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20240930011140 OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20240930011140 OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|�mol/L|<230|N|||F|||20240930011140 OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20240930011140 OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|�mol/L|<175|N|||F|||20240930011140 OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20240930011140 OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|�mol/L|<680|N|||F|||20240930011140 OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|�mol/L|<6.1|N|||F|||20240930011140 OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|�mol/L|6.3-100|N|||F|||20240930011140 OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|�mol/L|5-49|N|||F|||20240930011140 OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20240930011140 OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|�mol/L|<800|N|||F|||20240930011140 OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20240930011140 OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|�mol/L|<63|N|||F|||20240930011140 OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20240930011140 OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|�mol/L|<1500|N|||F|||20240930011140 OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|6|7341237093^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|7|7341237093^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|33|�mol/L|6.4-125|N|||F|||20240930011140 OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20240930011140 OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|�mol/L|10-80|N|||F|||20240930011140 OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20240930011140 OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|�mol/L|<0.95|N|||F|||20240930011140 OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|�mol/L|<0.45|N|||F|||20240930011140 OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20240930011140 OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|�mol/L|<0.65|N|||F|||20240930011140 OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|�mol/L|<0.65|N|||F|||20240930011140 OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|�mol/L|<0.45|N|||F|||20240930011140 OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|�mol/L|<2|N|||F|||20240930011140 OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|�mol/L||N|||F|||20240930011140 OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|�mol/L|<1.2|N|||F|||20240930011140 OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|�mol/L|<0.9|N|||F|||20240930011140 OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20240930011140 OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|�mol/L||N|||F|||20240930011140 OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|�mol/L|<0.2|N|||F|||20240930011140 OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|�mol/L|<12|N|||F|||20240930011140 OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|�mol/L|<1.4|N|||F|||20240930011140 OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20240930011140 OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20240930011140 OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|�mol/L|<3.5|N|||F|||20240930011140 OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|�mol/L|<7|N|||F|||20240930011140 OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|�mol/L||N|||F|||20240930011140 OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20240930011140 OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20240930011140 OBR|8|7341237093^FormNumber||57085-3^Organic acid newborn screen panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|�mol/L|<7.9|N|||F|||20240930011140 OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20240930011140 OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|�mol/L|<0.48|N|||F|||20240930011140 OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|�mol/L|<1.7|N|||F|||20240930011140 OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|�mol/L|<0.95|N|||F|||20240930011140 OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20240930011140 OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|�mol/L|<0.5|N|||F|||20240930011140 OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|�mol/L|<1.15|N|||F|||20240930011140 OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|�mol/L|<0.38|N|||F|||20240930011140 OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20240930011140 OBR|9|7341237093^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20240930011140 OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|10|7341237093^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<85|N|||F|||20240930011140 OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|11|7341237093^FormNumber||54090-6^Thyroid newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20240930011140 OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|12|7341237093^FormNumber||54079-9^Galactosemia newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|55.00|enzyme units|>50|N|||F|||20240930011140 OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|13|7341237093^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20240930011140 OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.�These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20240930011140 OBR|14|7341237093^FormNumber||57087-9^Biotinidase newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20240930011140 OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|15|7341237093^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/�L|>18|N|||F|||20240930011140 OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|16|7341237093^FormNumber||63414-7^Pompe Disease newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|�mol/L/h|>=18.2|N|||F|||20240930011140 OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|17|7341237093^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|�mol/L/h|>=18.2|N|||F|||20240930011140 OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|18|7341237093^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20240930011140 OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20240930011140 OBR|19|7341237093^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|�mol/L/h|>=2.06|N|||F|||20240930011140 OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|20|7341237093^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|21|7341237093^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|�mol/L|<=3|N|||F|||20240930011140 OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|�mol/L||N|||F|||20240930011140 OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20240930011140 OBR|22|7341237093^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20240930011140 OBR|23|7341237093^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|�mol/L|<0.47|N|||F|||20240930011140 diff --git a/examples/Test/Automated/GoldenCopy/Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 b/examples/Test/Automated/GoldenCopy/Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 deleted file mode 100644 index 7f48ad1ff..000000000 --- a/examples/Test/Automated/GoldenCopy/Input/003_ORU_R01_golden_copy_input_aa_unusual.hl7 +++ /dev/null @@ -1,142 +0,0 @@ -MSH|^~\\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^9414049^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241023050044||ORU^R01^ORU_R01|003|N|2.5.1 -PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** -NK1|1|*****PII REMOVED****** -ORC|RE|45789876^FormNumber||56352742^HospOrdNumber||||||||1043390461^PROFIT^DR JOCHEN^^^^^^^NPI|||||||||STANFORD/LUCILE PACKARD CHILDREN'S HOSPI^^^^^^^^^R777|725 WELCH RD, RM H1524^^PALO ALTO^CA^94304-1601 -OBR|1|45789876^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBR|2|45789876^FormNumber||57128-1^Newborn Screening Report summary panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241023050044 -OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241023050044 -OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241023050044 -OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241023050044 -OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241023050044 -OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - ALLIED LABORATORY \\\453 RAVENDALE DR, STE B, MOUNTAIN VIEW, CA 94043-5221\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Amino Acid Panel: An immediate referral to a CCS Metabolic Center is strongly recommended. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Stanford University Medical Center at (650) 724-8120. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241023050044 -OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241023050044 -OBR|3|45789876^FormNumber||57717-1^Newborn screen card data panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241023050044 -OBX|2|NM|8339-4^Birthweight^LN|1|2230|grams||N|||F|||20241023050044 -OBX|3|TM|57715-5^Time of birth^LN|1|1358|||N|||F|||20241023050044 -OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12412-5^Twins^LN|||N|||F|||20241023050044 -OBX|5|NM|73806-2^Newborn age in hours^LN|1|26|hour(s)||N|||F|||20241023050044 -OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241023050044 -OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241023050044 -OBX|8|TX|^^^99717-5^Accession Number^L|1|282-38-261/21-2024-12|||N|||F|||20241023050044 -OBX|9|TX|62324-9^Post-discharge provider name^LN|1|DR JOCHEN PROFIT|||N|||F|||20241023050044 -OBX|10|TX|62325-6^Post-discharge provider practice ID^LN|1|1043390461|||N|||F|||20241023050044 -OBX|11|TX|62327-2^Post-discharge provider practice address^LN|1|725 WELCH RD, RM H1524 PALO ALTO CA 94304-1601 USA|||N|||F|||20241023050044 -OBR|4|45789876^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBR|5|45789876^FormNumber||53261-4^Amino acid newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|368|µmol/L||N|||F|||20241023050044 -OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|310|µmol/L|<1000|N|||F|||20241023050044 -OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|34.6|µmol/L||N|||F|||20241023050044 -OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.06462|{Ratio}|<4.3|N|||F|||20241023050044 -OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|50.7|µmol/L|<230|N|||F|||20241023050044 -OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.16|{Ratio}|<1.35|N|||F|||20241023050044 -OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|32.5|µmol/L|<175|N|||F|||20241023050044 -OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.13|{Ratio}|<2.6|N|||F|||20241023050044 -OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|28.9|µmol/L|<680|N|||F|||20241023050044 -OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.25|µmol/L|<6.1|N|||F|||20241023050044 -OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|8.6|µmol/L|6.3-100|N|||F|||20241023050044 -OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|5|µmol/L|5-49|N|||F|||20241023050044 -OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|1.67|{Ratio}|<4.8|N|||F|||20241023050044 -OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|32|µmol/L|<800|N|||F|||20241023050044 -OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|6.41|{Ratio}||N|||F|||20241023050044 -OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|3|µmol/L|<63|N|||F|||20241023050044 -OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.09|{Ratio}|<1.9|N|||F|||20241023050044 -OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|55|µmol/L|<1500|N|||F|||20241023050044 -OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|This complex pattern of elevations require further evaluation|||A|||F|||20241023050044 -OBR|6|45789876^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 -OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241023050044 -OBR|7|45789876^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|34.9|µmol/L|6.4-125|N|||F|||20241023050044 -OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|7.84|{Ratio}|<70|N|||F|||20241023050044 -OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|28.1|µmol/L|10-80|N|||F|||20241023050044 -OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|3.53125|{Ratio}|<7.6|N|||F|||20241023050044 -OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.034|µmol/L|<0.95|N|||F|||20241023050044 -OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.038|µmol/L|<0.45|N|||F|||20241023050044 -OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|1.19|{Ratio}||N|||F|||20241023050044 -OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.155|µmol/L|<0.65|N|||F|||20241023050044 -OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.032|µmol/L|<0.65|N|||F|||20241023050044 -OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.030|µmol/L|<0.45|N|||F|||20241023050044 -OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.070|µmol/L|<2|N|||F|||20241023050044 -OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.05|µmol/L||N|||F|||20241023050044 -OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.270|µmol/L|<1.2|N|||F|||20241023050044 -OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.084|µmol/L|<0.9|N|||F|||20241023050044 -OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.75|{Ratio}||N|||F|||20241023050044 -OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.02|µmol/L||N|||F|||20241023050044 -OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.009|µmol/L|<0.2|N|||F|||20241023050044 -OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|2.87|µmol/L|<12|N|||F|||20241023050044 -OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.236|µmol/L|<1.4|N|||F|||20241023050044 -OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.022|µmol/L|<0.1|N|||F|||20241023050044 -OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00767|{Ratio}|<0.07|N|||F|||20241023050044 -OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|0.987|µmol/L|<3.5|N|||F|||20241023050044 -OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.59|µmol/L|<7|N|||F|||20241023050044 -OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.20|µmol/L||N|||F|||20241023050044 -OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.014|µmol/L|<0.1|N|||F|||20241023050044 -OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.034|µmol/L|<0.1|N|||F|||20241023050044 -OBR|8|45789876^FormNumber||57085-3^Organic acid newborn screen panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|1.9|µmol/L|<7.9|N|||F|||20241023050044 -OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.07|{Ratio}|<0.42|N|||F|||20241023050044 -OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.113|µmol/L|<0.48|N|||F|||20241023050044 -OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.161|µmol/L|<1.7|N|||F|||20241023050044 -OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.111|µmol/L|<0.95|N|||F|||20241023050044 -OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.05842|{Ratio}|<0.38|N|||F|||20241023050044 -OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.006|µmol/L|<0.5|N|||F|||20241023050044 -OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.140|µmol/L|<1.15|N|||F|||20241023050044 -OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.091|µmol/L|<0.38|N|||F|||20241023050044 -OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.80531|{Ratio}|>0.1|N|||F|||20241023050044 -OBR|9|45789876^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|27.50|ng/mL|<69|N|||F|||20241023050044 -OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 -OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241023050044 -OBR|10|45789876^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00029.9|nmol/L|<190|N|||F|||20241023050044 -OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 -OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044 -OBR|11|45789876^FormNumber||54090-6^Thyroid newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|NM|29575-8^Thyrotropin^LN|1|6.90|mIU/L|<29|N|||F|||20241023050044 -OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 -OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044 -OBR|12|45789876^FormNumber||54079-9^Galactosemia newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|226.51|enzyme units|>50|N|||F|||20241023050044 -OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 -OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044 -OBR|13|45789876^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241023050044 -OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241023050044 -OBR|14|45789876^FormNumber||57087-9^Biotinidase newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|28.87|ERU|>10|N|||F|||20241023050044 -OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 -OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044 -OBR|15|45789876^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|198|copies/µL|>18|N|||F|||20241023050044 -OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 -OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044 -OBR|16|45789876^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|7.91|µmol/L/h|>=1.62|N|||F|||20241023050044 -OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 -OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241023050044 -OBR|17|45789876^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|7.78|µmol/L/h|>=0.79|N|||F|||20241023050044 -OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 -OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044 -OBR|18|45789876^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241023050044 -OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 -OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241023050044 -OBR|19|45789876^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.94|µmol/L/h|>=2.95|N|||F|||20241023050044 -OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 -OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241023050044 -OBR|20|45789876^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241023050044 -OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241023050044 -OBR|21|45789876^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.00|µmol/L|<=3|N|||F|||20241023050044 -OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|707.37|µmol/L||N|||F|||20241023050044 -OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|1.41||<=6|N|||F|||20241023050044 -OBR|22|45789876^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241023050044 -OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241023050044 -OBR|23|45789876^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410031603|||||||||^PROFIT^JOCHEN||||||20241023050044|||F -OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.246|µmol/L|<0.47|N|||F|||20241023050044 diff --git a/examples/Test/Automated/GoldenCopy/Input/004_CA_ORU_R01_CDPH_UCSD_189700664_pre_TI_TC000.hl7 b/examples/Test/Automated/GoldenCopy/Input/004_CA_ORU_R01_CDPH_UCSD_189700664_pre_TI_TC000.hl7 new file mode 100644 index 000000000..2826e7995 --- /dev/null +++ b/examples/Test/Automated/GoldenCopy/Input/004_CA_ORU_R01_CDPH_UCSD_189700664_pre_TI_TC000.hl7 @@ -0,0 +1 @@ +MSH|^~\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241118050532||ORU^R01^ORU_R01|004|N|2.5.1 PID|1||80015913^^^&NPI^MR||CDPHRESULT^GIRL C MARY^^^^^B||202410241550|F||2076-8^Native Hawaiian or Other Pacific Islander||||||||||||2186-5^Not Hispanic or Latino||Y|3 NK1|1|CDPHRESULT^MARY|MTH^Mother|123 ST^^SAN DIEGO^CA^92123^USA|^^^^^858^2490014|||||||||||19981024 ORC|RE|7312693833^FormNumber||189700664^HospOrdNumber||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|7312693833^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBR|2|7312693833^FormNumber||57128-1^Newborn Screening Report summary panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241118050532 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241118050532 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA12428-1^All screening is in range for the conditions tested^LN|||N|||F|||20241118050532 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241118050532 OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241118050532 OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241118050532 OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241118050532 OBR|3|7312693833^FormNumber||57717-1^Newborn screen card data panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241118050532 OBX|2|NM|8339-4^Birthweight^LN|1|2722|grams||N|||F|||20241118050532 OBX|3|TM|57715-5^Time of birth^LN|1|1550|||N|||F|||20241118050532 OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12413-3^Triplets^LN|||N|||F|||20241118050532 OBX|5|NM|73806-2^Newborn age in hours^LN|1|23|hour(s)||N|||F|||20241118050532 OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241118050532 OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241118050532 OBX|8|TX|^^^99717-5^Accession Number^L|1|306-98-178/21-2024-21|||N|||F|||20241118050532 OBX|9|TX|62324-9^Post-discharge provider name^LN|1|MARVIN ZAGULI|||N|||F|||20241118050532 OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241118050532 OBR|4|7312693833^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBR|5|7312693833^FormNumber||53261-4^Amino acid newborn screen panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241118050532 OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|�mol/L|<1000|N|||F|||20241118050532 OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241118050532 OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241118050532 OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|�mol/L|<230|N|||F|||20241118050532 OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241118050532 OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|�mol/L|<175|N|||F|||20241118050532 OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241118050532 OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|�mol/L|<680|N|||F|||20241118050532 OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|�mol/L|<6.1|N|||F|||20241118050532 OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|�mol/L|6.3-100|N|||F|||20241118050532 OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|�mol/L|5-49|N|||F|||20241118050532 OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241118050532 OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|�mol/L|<800|N|||F|||20241118050532 OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241118050532 OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|�mol/L|<63|N|||F|||20241118050532 OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241118050532 OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|�mol/L|<1500|N|||F|||20241118050532 OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|6|7312693833^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|7|7312693833^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|33|�mol/L|6.4-125|N|||F|||20241118050532 OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241118050532 OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|�mol/L|10-80|N|||F|||20241118050532 OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241118050532 OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|�mol/L|<0.95|N|||F|||20241118050532 OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|�mol/L|<0.45|N|||F|||20241118050532 OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241118050532 OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|�mol/L|<0.65|N|||F|||20241118050532 OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|�mol/L|<0.65|N|||F|||20241118050532 OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|�mol/L|<0.45|N|||F|||20241118050532 OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|�mol/L|<2|N|||F|||20241118050532 OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|�mol/L||N|||F|||20241118050532 OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|�mol/L|<1.2|N|||F|||20241118050532 OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|�mol/L|<0.9|N|||F|||20241118050532 OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241118050532 OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|�mol/L||N|||F|||20241118050532 OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|�mol/L|<0.2|N|||F|||20241118050532 OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|�mol/L|<12|N|||F|||20241118050532 OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|�mol/L|<1.4|N|||F|||20241118050532 OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241118050532 OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241118050532 OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|�mol/L|<3.5|N|||F|||20241118050532 OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|�mol/L|<7|N|||F|||20241118050532 OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|�mol/L||N|||F|||20241118050532 OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241118050532 OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241118050532 OBR|8|7312693833^FormNumber||57085-3^Organic acid newborn screen panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|�mol/L|<7.9|N|||F|||20241118050532 OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241118050532 OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|�mol/L|<0.48|N|||F|||20241118050532 OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|�mol/L|<1.7|N|||F|||20241118050532 OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|�mol/L|<0.95|N|||F|||20241118050532 OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241118050532 OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|�mol/L|<0.5|N|||F|||20241118050532 OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|�mol/L|<1.15|N|||F|||20241118050532 OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|�mol/L|<0.38|N|||F|||20241118050532 OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241118050532 OBR|9|7312693833^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241118050532 OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|10|7312693833^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<85|N|||F|||20241118050532 OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|11|7312693833^FormNumber||54090-6^Thyroid newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241118050532 OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|12|7312693833^FormNumber||54079-9^Galactosemia newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|55.00|enzyme units|>50|N|||F|||20241118050532 OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|13|7312693833^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241118050532 OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.�These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241118050532 OBR|14|7312693833^FormNumber||57087-9^Biotinidase newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241118050532 OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|15|7312693833^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/�L|>18|N|||F|||20241118050532 OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|16|7312693833^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|�mol/L/h|>=18.2|N|||F|||20241118050532 OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|17|7312693833^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|�mol/L/h|>=18.2|N|||F|||20241118050532 OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|18|7312693833^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241118050532 OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241118050532 OBR|19|7312693833^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|�mol/L/h|>=2.06|N|||F|||20241118050532 OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|20|7312693833^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|21|7312693833^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|�mol/L|<=3|N|||F|||20241118050532 OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|�mol/L||N|||F|||20241118050532 OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|2.93||<=10|N|||F|||20241118050532 OBR|22|7312693833^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241118050532 OBR|23|7312693833^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|�mol/L|<0.47|N|||F|||20241118050532 diff --git a/examples/Test/Automated/GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 b/examples/Test/Automated/GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 deleted file mode 100644 index fac1f1dc2..000000000 --- a/examples/Test/Automated/GoldenCopy/Input/004_ORU_R01_golden_copy_input_in_range.hl7 +++ /dev/null @@ -1,142 +0,0 @@ -MSH|^~\\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241030050154||ORU^R01^ORU_R01|004|N|2.5.1 -PID|1||335441864^^^104638912487&NPI^MR||*****PII REMOVED****** -NK1|1|*****PII REMOVED****** -ORC|RE|356672001^FormNumber||629813494^HospOrdNumber||||||||1093050858^SILVA^RICHARD^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|200 W ARBOR DR^^SAN DIEGO^CA^92103-1911 -OBR|1|356672001^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBR|2|356672001^FormNumber||57128-1^Newborn Screening Report summary panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241030050154 -OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241030050154 -OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA12428-1^All screening is in range for the conditions tested^LN|||N|||F|||20241030050154 -OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241030050154 -OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241030050154 -OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \\\2130 E Illinois Avenue, FRESNO, CA 93701\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (858) 966-8708. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241030050154 -OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241030050154 -OBR|3|356672001^FormNumber||57717-1^Newborn screen card data panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241030050154 -OBX|2|NM|8339-4^Birthweight^LN|1|3464|grams||N|||F|||20241030050154 -OBX|3|TM|57715-5^Time of birth^LN|1|0444|||N|||F|||20241030050154 -OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241030050154 -OBX|5|NM|73806-2^Newborn age in hours^LN|1|19|hour(s)||N|||F|||20241030050154 -OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241030050154 -OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241030050154 -OBX|8|TX|^^^99717-5^Accession Number^L|1|292-04-123/21-2024-32|||N|||F|||20241030050154 -OBX|9|TX|62324-9^Post-discharge provider name^LN|1|DIANE BEDROSIAN|||N|||F|||20241030050154 -OBX|10|TX|62325-6^Post-discharge provider practice ID^LN|1|1447323951|||N|||F|||20241030050154 -OBX|11|TX|62327-2^Post-discharge provider practice address^LN|1|200 W ARBOR DR SAN DIEGO CA 92103-1911 USA|||N|||F|||20241030050154 -OBR|4|356672001^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBR|5|356672001^FormNumber||53261-4^Amino acid newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|536|µmol/L||N|||F|||20241030050154 -OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|559|µmol/L|<1000|N|||F|||20241030050154 -OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|123|µmol/L||N|||F|||20241030050154 -OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|2.14286|{Ratio}|<4.3|N|||F|||20241030050154 -OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|113|µmol/L|<230|N|||F|||20241030050154 -OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.20|{Ratio}|<1.35|N|||F|||20241030050154 -OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|57.4|µmol/L|<175|N|||F|||20241030050154 -OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.05|{Ratio}|<2.6|N|||F|||20241030050154 -OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|54.8|µmol/L|<680|N|||F|||20241030050154 -OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.20|µmol/L|<6.1|N|||F|||20241030050154 -OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|22.8|µmol/L|6.3-100|N|||F|||20241030050154 -OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|10|µmol/L|5-49|N|||F|||20241030050154 -OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|1.52|{Ratio}|<4.8|N|||F|||20241030050154 -OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|84|µmol/L|<800|N|||F|||20241030050154 -OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|8.40|{Ratio}||N|||F|||20241030050154 -OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|7|µmol/L|<63|N|||F|||20241030050154 -OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.08|{Ratio}|<1.9|N|||F|||20241030050154 -OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|154|µmol/L|<1500|N|||F|||20241030050154 -OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241030050154 -OBR|6|356672001^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 -OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241030050154 -OBR|7|356672001^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|24.4|µmol/L|6.4-125|N|||F|||20241030050154 -OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|4.32|{Ratio}|<70|N|||F|||20241030050154 -OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|27.3|µmol/L|10-80|N|||F|||20241030050154 -OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|2.73000|{Ratio}|<7.6|N|||F|||20241030050154 -OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.067|µmol/L|<0.95|N|||F|||20241030050154 -OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.076|µmol/L|<0.45|N|||F|||20241030050154 -OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.76|{Ratio}||N|||F|||20241030050154 -OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.103|µmol/L|<0.65|N|||F|||20241030050154 -OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.100|µmol/L|<0.65|N|||F|||20241030050154 -OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.035|µmol/L|<0.45|N|||F|||20241030050154 -OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.132|µmol/L|<2|N|||F|||20241030050154 -OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.17|µmol/L||N|||F|||20241030050154 -OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.264|µmol/L|<1.2|N|||F|||20241030050154 -OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.189|µmol/L|<0.9|N|||F|||20241030050154 -OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.13|{Ratio}||N|||F|||20241030050154 -OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.03|µmol/L||N|||F|||20241030050154 -OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.021|µmol/L|<0.2|N|||F|||20241030050154 -OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|3.88|µmol/L|<12|N|||F|||20241030050154 -OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.371|µmol/L|<1.4|N|||F|||20241030050154 -OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.030|µmol/L|<0.1|N|||F|||20241030050154 -OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00773|{Ratio}|<0.07|N|||F|||20241030050154 -OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|1.11|µmol/L|<3.5|N|||F|||20241030050154 -OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.76|µmol/L|<7|N|||F|||20241030050154 -OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.15|µmol/L||N|||F|||20241030050154 -OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.015|µmol/L|<0.1|N|||F|||20241030050154 -OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.032|µmol/L|<0.1|N|||F|||20241030050154 -OBR|8|356672001^FormNumber||57085-3^Organic acid newborn screen panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|2.3|µmol/L|<7.9|N|||F|||20241030050154 -OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.09|{Ratio}|<0.42|N|||F|||20241030050154 -OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.273|µmol/L|<0.48|N|||F|||20241030050154 -OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.315|µmol/L|<1.7|N|||F|||20241030050154 -OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.117|µmol/L|<0.95|N|||F|||20241030050154 -OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.05087|{Ratio}|<0.38|N|||F|||20241030050154 -OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.009|µmol/L|<0.5|N|||F|||20241030050154 -OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.217|µmol/L|<1.15|N|||F|||20241030050154 -OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.183|µmol/L|<0.38|N|||F|||20241030050154 -OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.67033|{Ratio}|>0.1|N|||F|||20241030050154 -OBR|9|356672001^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|27.20|ng/mL|<69|N|||F|||20241030050154 -OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 -OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241030050154 -OBR|10|356672001^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00015.2|nmol/L|<85|N|||F|||20241030050154 -OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 -OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154 -OBR|11|356672001^FormNumber||54090-6^Thyroid newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|NM|29575-8^Thyrotropin^LN|1|15.40|mIU/L|<29|N|||F|||20241030050154 -OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 -OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154 -OBR|12|356672001^FormNumber||54079-9^Galactosemia newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|273.54|enzyme units|>50|N|||F|||20241030050154 -OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 -OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154 -OBR|13|356672001^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241030050154 -OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241030050154 -OBR|14|356672001^FormNumber||57087-9^Biotinidase newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|73.00|ERU|>10|N|||F|||20241030050154 -OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 -OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154 -OBR|15|356672001^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|120|copies/µL|>18|N|||F|||20241030050154 -OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 -OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154 -OBR|16|356672001^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|11.43|µmol/L/h|>=1.54|N|||F|||20241030050154 -OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 -OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241030050154 -OBR|17|356672001^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|9.33|µmol/L/h|>=0.86|N|||F|||20241030050154 -OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 -OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154 -OBR|18|356672001^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241030050154 -OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 -OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241030050154 -OBR|19|356672001^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|22.31|µmol/L/h|>=2.84|N|||F|||20241030050154 -OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 -OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241030050154 -OBR|20|356672001^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241030050154 -OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241030050154 -OBR|21|356672001^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.22|µmol/L|<=3|N|||F|||20241030050154 -OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|411.55|µmol/L||N|||F|||20241030050154 -OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|2.95||<=6|N|||F|||20241030050154 -OBR|22|356672001^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241030050154 -OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241030050154 -OBR|23|356672001^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410182335|||||||||^SILVA^RICHARD||||||20241030050154|||F -OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.138|µmol/L|<0.47|N|||F|||20241030050154 diff --git a/examples/Test/Automated/GoldenCopy/Input/005_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002C.hl7 b/examples/Test/Automated/GoldenCopy/Input/005_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002C.hl7 new file mode 100644 index 000000000..e61dbf1a6 --- /dev/null +++ b/examples/Test/Automated/GoldenCopy/Input/005_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002C.hl7 @@ -0,0 +1 @@ +MSH|^~\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241118030201||ORU^R01^ORU_R01|005|N|2.5.1 PID|1||80015887^^^&NPI^MR||CDPHTHREE^BOY B MOMTHREE^^^^^B||202410161318|M||2131-1^Other Race||||||||||||UNK^Unknown||Y|2 NK1|1|CDPHTHREE^MOMTHREE|MTH^Mother|3 3RD ST^^SAN DIEGO^CA^92126^USA|^^^^^858^2490007|||||||||||20031007 ORC|RE|7381238055^FormNumber||189693889^HospOrdNumber||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|7381238055^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBR|2|7381238055^FormNumber||57128-1^Newborn Screening Report summary panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241118030201 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241118030201 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241118030201 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241118030201 OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241118030201 OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\Amino Acid Panel: An immediate referral to a CCS Metabolic Center is strongly recommended. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241118030201 OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241118030201 OBR|3|7381238055^FormNumber||57717-1^Newborn screen card data panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241118030201 OBX|2|NM|8339-4^Birthweight^LN|1|2948|grams||N|||F|||20241118030201 OBX|3|TM|57715-5^Time of birth^LN|1|1318|||N|||F|||20241118030201 OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12412-5^Twins^LN|||N|||F|||20241118030201 OBX|5|NM|73806-2^Newborn age in hours^LN|1|3|hour(s)||N|||F|||20241118030201 OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241118030201 OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241118030201 OBX|8|TX|^^^99717-5^Accession Number^L|1|290-84-459/21-2024-21|||N|||F|||20241118030201 OBX|9|TX|62324-9^Post-discharge provider name^LN|1|MICHELLE LEFF|||N|||F|||20241118030201 OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241118030201 OBR|4|7381238055^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBR|5|7381238055^FormNumber||53261-4^Amino acid newborn screen panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241118030201 OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|�mol/L|<1000|N|||F|||20241118030201 OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241118030201 OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241118030201 OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|�mol/L|<230|N|||F|||20241118030201 OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241118030201 OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|�mol/L|<175|N|||F|||20241118030201 OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241118030201 OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|�mol/L|<680|N|||F|||20241118030201 OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|�mol/L|<6.1|N|||F|||20241118030201 OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|�mol/L|6.3-100|N|||F|||20241118030201 OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|275|�mol/L|5-49|H|||F|||20241118030201 OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|11|{Ratio}|<4.8|H|||F|||20241118030201 OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|�mol/L|<800|N|||F|||20241118030201 OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241118030201 OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|�mol/L|<63|N|||F|||20241118030201 OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241118030201 OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|�mol/L|<1500|N|||F|||20241118030201 OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|This pattern of elevations is consistent with Citrullinemia (I/II), ASAL Deficiency|||A|||F|||20241118030201 OBR|6|7381238055^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|7|7381238055^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|33|�mol/L|6.4-125|N|||F|||20241118030201 OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241118030201 OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|�mol/L|10-80|N|||F|||20241118030201 OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241118030201 OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|�mol/L|<0.95|N|||F|||20241118030201 OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|�mol/L|<0.45|N|||F|||20241118030201 OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241118030201 OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|�mol/L|<0.65|N|||F|||20241118030201 OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|�mol/L|<0.65|N|||F|||20241118030201 OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|�mol/L|<0.45|N|||F|||20241118030201 OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|�mol/L|<2|N|||F|||20241118030201 OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|�mol/L||N|||F|||20241118030201 OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|�mol/L|<1.2|N|||F|||20241118030201 OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|�mol/L|<0.9|N|||F|||20241118030201 OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241118030201 OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|�mol/L||N|||F|||20241118030201 OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|�mol/L|<0.2|N|||F|||20241118030201 OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|�mol/L|<12|N|||F|||20241118030201 OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|�mol/L|<1.4|N|||F|||20241118030201 OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241118030201 OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241118030201 OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|�mol/L|<3.5|N|||F|||20241118030201 OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|�mol/L|<7|N|||F|||20241118030201 OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|�mol/L||N|||F|||20241118030201 OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241118030201 OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241118030201 OBR|8|7381238055^FormNumber||57085-3^Organic acid newborn screen panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|�mol/L|<7.9|N|||F|||20241118030201 OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241118030201 OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|�mol/L|<0.48|N|||F|||20241118030201 OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|�mol/L|<1.7|N|||F|||20241118030201 OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|�mol/L|<0.95|N|||F|||20241118030201 OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241118030201 OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|�mol/L|<0.5|N|||F|||20241118030201 OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|�mol/L|<1.15|N|||F|||20241118030201 OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|�mol/L|<0.38|N|||F|||20241118030201 OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241118030201 OBR|9|7381238055^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241118030201 OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|10|7381238055^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<85|N|||F|||20241118030201 OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|11|7381238055^FormNumber||54090-6^Thyroid newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241118030201 OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|12|7381238055^FormNumber||54079-9^Galactosemia newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|55.00|enzyme units|>50|N|||F|||20241118030201 OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|13|7381238055^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241118030201 OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.�These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241118030201 OBR|14|7381238055^FormNumber||57087-9^Biotinidase newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241118030201 OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|15|7381238055^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/�L|>18|N|||F|||20241118030201 OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|16|7381238055^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|�mol/L/h|>=18.2|N|||F|||20241118030201 OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|17|7381238055^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|�mol/L/h|>=18.2|N|||F|||20241118030201 OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|18|7381238055^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241118030201 OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241118030201 OBR|19|7381238055^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|�mol/L/h|>=2.06|N|||F|||20241118030201 OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|20|7381238055^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|21|7381238055^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|�mol/L|<=3|N|||F|||20241118030201 OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|�mol/L||N|||F|||20241118030201 OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20241118030201 OBR|22|7381238055^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241118030201 OBR|23|7381238055^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|�mol/L|<0.47|N|||F|||20241118030201 diff --git a/examples/Test/Automated/GoldenCopy/Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 b/examples/Test/Automated/GoldenCopy/Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 deleted file mode 100644 index f4f0b0172..000000000 --- a/examples/Test/Automated/GoldenCopy/Input/005_ORU_R01_golden_copy_input_out_of_range.hl7 +++ /dev/null @@ -1,142 +0,0 @@ -MSH|^~\\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^9414049^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241018050017||ORU^R01^ORU_R01|005|N|2.5.1 -PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** -NK1|1|*****PII REMOVED****** -ORC|RE|753234567^FormNumber||56155532^HospOrdNumber||||||||^SCALA^MELISSA|||||||||STANFORD/LUCILE PACKARD CHILDREN'S HOSPI^^^^^^^^^R777|725 WELCH RD, RM H1524^^PALO ALTO^CA^94304-1601 -OBR|1|753234567^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBR|1|753234567^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBR|2|753234567^FormNumber||57128-1^Newborn Screening Report summary panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241018050017 -OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241018050017 -OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241018050017 -OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA16207-5^Hemoglobinopathies^LN|||N|||F|||20241018050017 -OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241018050017 -OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - ALLIED LABORATORY \\\453 RAVENDALE DR, STE B, MOUNTAIN VIEW, CA 94043-5221\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Hb: An immediate referral to a CCS Hematology Center or a pediatric hematologist familiar with alpha thalassemia and Hb H disease is strongly recommended for this infant. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Stanford University Medical Center at (650) 724-8120. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241018050017 -OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241018050017 -OBR|3|753234567^FormNumber||57717-1^Newborn screen card data panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241018050017 -OBX|2|NM|8339-4^Birthweight^LN|1|2658|grams||N|||F|||20241018050017 -OBX|3|TM|57715-5^Time of birth^LN|1|0027|||N|||F|||20241018050017 -OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241018050017 -OBX|5|NM|73806-2^Newborn age in hours^LN|1|28|hour(s)||N|||F|||20241018050017 -OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241018050017 -OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241018050017 -OBX|8|TX|^^^99717-5^Accession Number^L|1|272-95-009/21-2024-12|||N|||F|||20241018050017 -OBX|9|TX|62324-9^Post-discharge provider name^LN|1|MELISSA SCALA|||N|||F|||20241018050017 -OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|725 WELCH RD, RM H1524 PALO ALTO CA 94304-1601 USA|||N|||F|||20241018050017 -OBR|4|753234567^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBR|5|753234567^FormNumber||53261-4^Amino acid newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|926|µmol/L||N|||F|||20241018050017 -OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|588|µmol/L|<1000|N|||F|||20241018050017 -OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|79.4|µmol/L||N|||F|||20241018050017 -OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|1.29739|{Ratio}|<4.3|N|||F|||20241018050017 -OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|99.2|µmol/L|<230|N|||F|||20241018050017 -OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.17|{Ratio}|<1.35|N|||F|||20241018050017 -OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|61.2|µmol/L|<175|N|||F|||20241018050017 -OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|1.77|{Ratio}|<2.6|N|||F|||20241018050017 -OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|34.7|µmol/L|<680|N|||F|||20241018050017 -OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.33|µmol/L|<6.1|N|||F|||20241018050017 -OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|20.4|µmol/L|6.3-100|N|||F|||20241018050017 -OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|10|µmol/L|5-49|N|||F|||20241018050017 -OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|2.79|{Ratio}|<4.8|N|||F|||20241018050017 -OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|43|µmol/L|<800|N|||F|||20241018050017 -OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|4.44|{Ratio}||N|||F|||20241018050017 -OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|3|µmol/L|<63|N|||F|||20241018050017 -OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.08|{Ratio}|<1.9|N|||F|||20241018050017 -OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|187|µmol/L|<1500|N|||F|||20241018050017 -OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050017 -OBR|6|753234567^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 -OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050017 -OBR|7|753234567^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|39.6|µmol/L|6.4-125|N|||F|||20241018050017 -OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|5.35|{Ratio}|<70|N|||F|||20241018050017 -OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|34.7|µmol/L|10-80|N|||F|||20241018050017 -OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|3.27536|{Ratio}|<7.6|N|||F|||20241018050017 -OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.100|µmol/L|<0.95|N|||F|||20241018050017 -OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.075|µmol/L|<0.45|N|||F|||20241018050017 -OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|1.09|{Ratio}||N|||F|||20241018050017 -OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.163|µmol/L|<0.65|N|||F|||20241018050017 -OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.069|µmol/L|<0.65|N|||F|||20241018050017 -OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.057|µmol/L|<0.45|N|||F|||20241018050017 -OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.118|µmol/L|<2|N|||F|||20241018050017 -OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.06|µmol/L||N|||F|||20241018050017 -OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.394|µmol/L|<1.2|N|||F|||20241018050017 -OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.130|µmol/L|<0.9|N|||F|||20241018050017 -OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|2.32|{Ratio}||N|||F|||20241018050017 -OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.03|µmol/L||N|||F|||20241018050017 -OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.026|µmol/L|<0.2|N|||F|||20241018050017 -OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5.52|µmol/L|<12|N|||F|||20241018050017 -OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.245|µmol/L|<1.4|N|||F|||20241018050017 -OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.042|µmol/L|<0.1|N|||F|||20241018050017 -OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00761|{Ratio}|<0.07|N|||F|||20241018050017 -OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2.13|µmol/L|<3.5|N|||F|||20241018050017 -OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.89|µmol/L|<7|N|||F|||20241018050017 -OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.29|µmol/L||N|||F|||20241018050017 -OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.032|µmol/L|<0.1|N|||F|||20241018050017 -OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.047|µmol/L|<0.1|N|||F|||20241018050017 -OBR|8|753234567^FormNumber||57085-3^Organic acid newborn screen panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|4.2|µmol/L|<7.9|N|||F|||20241018050017 -OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.12|{Ratio}|<0.42|N|||F|||20241018050017 -OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.226|µmol/L|<0.48|N|||F|||20241018050017 -OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.424|µmol/L|<1.7|N|||F|||20241018050017 -OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.247|µmol/L|<0.95|N|||F|||20241018050017 -OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.05881|{Ratio}|<0.38|N|||F|||20241018050017 -OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.008|µmol/L|<0.5|N|||F|||20241018050017 -OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.287|µmol/L|<1.15|N|||F|||20241018050017 -OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.179|µmol/L|<0.38|N|||F|||20241018050017 -OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.79204|{Ratio}|>0.1|N|||F|||20241018050017 -OBR|9|753234567^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|18.50|ng/mL|<69|N|||F|||20241018050017 -OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 -OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241018050017 -OBR|10|753234567^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00013.8|nmol/L|<85|N|||F|||20241018050017 -OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 -OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017 -OBR|11|753234567^FormNumber||54090-6^Thyroid newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|NM|29575-8^Thyrotropin^LN|1|2.40|mIU/L|<29|N|||F|||20241018050017 -OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 -OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017 -OBR|12|753234567^FormNumber||54079-9^Galactosemia newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|293.00|enzyme units|>50|N|||F|||20241018050017 -OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 -OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017 -OBR|13|753234567^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA + Barts||||||F|||20241018050017 -OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|The presence of Hb Barts at a high percentage is consistent with Hb H disease, a clinically significant hemoglobin disorder.||||||F|||20241018050017 -OBR|14|753234567^FormNumber||57087-9^Biotinidase newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|43.76|ERU|>10|N|||F|||20241018050017 -OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 -OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017 -OBR|15|753234567^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|99|copies/µL|>18|N|||F|||20241018050017 -OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 -OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017 -OBR|16|753234567^FormNumber||63414-7^Pompe Disease newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|7.09|µmol/L/h|>=1.67|N|||F|||20241018050017 -OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 -OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241018050017 -OBR|17|753234567^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|8.33|µmol/L/h|>=0.86|N|||F|||20241018050017 -OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 -OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017 -OBR|18|753234567^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241018050017 -OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 -OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241018050017 -OBR|19|753234567^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|15.65|µmol/L/h|>=2.8|N|||F|||20241018050017 -OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 -OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241018050017 -OBR|20|753234567^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241018050017 -OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241018050017 -OBR|21|753234567^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.05|µmol/L|<=3|N|||F|||20241018050017 -OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|616.49|µmol/L||N|||F|||20241018050017 -OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|1.70||<=6|N|||F|||20241018050017 -OBR|22|753234567^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241018050017 -OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241018050017 -OBR|23|753234567^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202409260512|||||||||^SCALA^MELISSA||||||20241018050017|||F -OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.260|µmol/L|<0.47|N|||F|||20241018050017 diff --git a/examples/Test/Automated/GoldenCopy/Input/006_CA_ORU_R01_CDPH_UCSD_189716938_pre_TI_TC002A.hl7 b/examples/Test/Automated/GoldenCopy/Input/006_CA_ORU_R01_CDPH_UCSD_189716938_pre_TI_TC002A.hl7 new file mode 100644 index 000000000..7ba118a0f --- /dev/null +++ b/examples/Test/Automated/GoldenCopy/Input/006_CA_ORU_R01_CDPH_UCSD_189716938_pre_TI_TC002A.hl7 @@ -0,0 +1 @@ +MSH|^~\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241203094445||ORU^R01^ORU_R01|006|N|2.5.1 PID|1||80015959^^^&NPI^MR||INTERFACE^GIRL B CDPHTWO^^^^^B||20241118084900|F||2028-9^Asian||||||||||||2186-5^Not Hispanic or Latino||Y|2 NK1|1|INTERFACE^CDPHTWO|MTH^Mother|9877 7TH ST^^SAN DIEGO^CA^92126^USA|^^^^^619^4704213|||||||||||19961118 ORC|RE|7872697780^FormNumber||189716938^HospOrdNumber||||||||1427255868^JOHNSON^KATHRYN^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|7872697780^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBR|2|7872697780^FormNumber||57128-1^Newborn Screening Report summary panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241203094445 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241203094445 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241203094445 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|99717-3^Hypothyroidism^L|||N|||F|||20241203094445 OBX|5|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|2|LA12543-7^GALT^LN|||N|||F|||20241203094445 OBX|6|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|3|LA22279-6^SMA^LN|||N|||F|||20241203094445 OBX|7|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|4|LA30113-7^GAMT^LN|||N|||F|||20241203094445 OBX|8|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|5|LA12532-0^BIO^LN|||N|||F|||20241203094445 OBX|9|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241203094445 OBX|10|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\Biotinidase Deficiency: This screen for Biotinidase Deficiency was positive. Another specimen MUST be collected on this infant. \.br\\.br\Guanidinoacetate Methyltransferase (GAMT): An immediate referral to a CCS-approved Metabolic Center for evaluation and additional testing is strongly recommended. \.br\\.br\Spinal Muscular Atrophy (SMA): An immediate referral to a CCS-approved Neuromuscular Center for evaluation and additional testing is strongly recommended due an apparent SMN1 exon 7 homozygous deletion. \.br\\.br\Galactosemia: Additional testing is required to rule out disorder.�Call your Newborn Screening Coordinator for assistance. \.br\\.br\Primary Congenital Hypothyroidism: Additional testing in consultation with a CCS-approved Endocrine Center or Pediatric Endocrinologist is strongly recommended.�Call your Newborn Screening Coordinator for assistance. \.br\\.br\ATTENTION: THIS CHILD HAS TESTED POSITIVE FOR MORE THAN ONE TEST. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241203094445 OBX|11|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241203094445 OBR|3|7872697780^FormNumber||57717-1^Newborn screen card data panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241203094445 OBX|2|NM|8339-4^Birthweight^LN|1|2495|grams||N|||F|||20241203094445 OBX|3|TM|57715-5^Time of birth^LN|1|8490|||N|||F|||20241203094445 OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12412-5^Twins^LN|||N|||F|||20241203094445 OBX|5|NM|73806-2^Newborn age in hours^LN|1|82|hour(s)||N|||F|||20241203094445 OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241203094445 OBX|7|CE|67704-7^Feeding types^LN|1|LA16915-3^Lactose formula^LN|||N|||F|||20241203094445 OBX|8|TX|^^^99717-5^Accession Number^L|1|326-64-675/21-2024-21|||N|||F|||20241203094445 OBX|9|TX|62324-9^Post-discharge provider name^LN|1|MICHELLE LEFF|||N|||F|||20241203094445 OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241203094445 OBR|4|7872697780^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBR|5|7872697780^FormNumber||53261-4^Amino acid newborn screen panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241203094445 OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|�mol/L|<1000|N|||F|||20241203094445 OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241203094445 OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241203094445 OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|�mol/L|<230|N|||F|||20241203094445 OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241203094445 OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|�mol/L|<175|N|||F|||20241203094445 OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241203094445 OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|�mol/L|<680|N|||F|||20241203094445 OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|�mol/L|<6.1|N|||F|||20241203094445 OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|�mol/L|6.3-100|N|||F|||20241203094445 OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|�mol/L|5-49|N|||F|||20241203094445 OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241203094445 OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|�mol/L|<800|N|||F|||20241203094445 OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241203094445 OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|�mol/L|<63|N|||F|||20241203094445 OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241203094445 OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|�mol/L|<1500|N|||F|||20241203094445 OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241203094445 OBR|6|7872697780^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241203094445 OBR|7|7872697780^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|33|�mol/L|6.4-125|N|||F|||20241203094445 OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241203094445 OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|�mol/L|10-80|N|||F|||20241203094445 OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241203094445 OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|�mol/L|<0.95|N|||F|||20241203094445 OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|�mol/L|<0.45|N|||F|||20241203094445 OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241203094445 OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|�mol/L|<0.65|N|||F|||20241203094445 OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|�mol/L|<0.65|N|||F|||20241203094445 OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|�mol/L|<0.45|N|||F|||20241203094445 OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|�mol/L|<2|N|||F|||20241203094445 OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|�mol/L||N|||F|||20241203094445 OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|�mol/L|<1.2|N|||F|||20241203094445 OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|�mol/L|<0.9|N|||F|||20241203094445 OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241203094445 OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|�mol/L||N|||F|||20241203094445 OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|�mol/L|<0.2|N|||F|||20241203094445 OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|�mol/L|<12|N|||F|||20241203094445 OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|�mol/L|<1.4|N|||F|||20241203094445 OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241203094445 OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241203094445 OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|�mol/L|<3.5|N|||F|||20241203094445 OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|�mol/L|<7|N|||F|||20241203094445 OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|�mol/L||N|||F|||20241203094445 OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241203094445 OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241203094445 OBR|8|7872697780^FormNumber||57085-3^Organic acid newborn screen panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|�mol/L|<7.9|N|||F|||20241203094445 OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241203094445 OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|�mol/L|<0.48|N|||F|||20241203094445 OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|�mol/L|<1.7|N|||F|||20241203094445 OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|�mol/L|<0.95|N|||F|||20241203094445 OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241203094445 OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|�mol/L|<0.5|N|||F|||20241203094445 OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|�mol/L|<1.15|N|||F|||20241203094445 OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|�mol/L|<0.38|N|||F|||20241203094445 OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241203094445 OBR|9|7872697780^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241203094445 OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241203094445 OBR|10|7872697780^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<190|N|||F|||20241203094445 OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241203094445 OBR|11|7872697780^FormNumber||54090-6^Thyroid newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|29575-8^Thyrotropin^LN|1|34.00|mIU/L|<29|H|||F|||20241203094445 OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241203094445 OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241203094445 OBR|12|7872697780^FormNumber||54079-9^Galactosemia newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|48.00|enzyme units|>50|L|||F|||20241203094445 OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241203094445 OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241203094445 OBR|13|7872697780^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241203094445 OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.�These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241203094445 OBR|14|7872697780^FormNumber||57087-9^Biotinidase newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|8.00|ERU|>10|L|||F|||20241203094445 OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241203094445 OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241203094445 OBR|15|7872697780^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/�L|>18|N|||F|||20241203094445 OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241203094445 OBR|16|7872697780^FormNumber||63414-7^Pompe Disease newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|�mol/L/h|>=18.2|N|||F|||20241203094445 OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241203094445 OBR|17|7872697780^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|�mol/L/h|>=18.2|N|||F|||20241203094445 OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241203094445 OBR|18|7872697780^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Absent||Exon 7 Present|A|||F|||20241203094445 OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241203094445 OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Positive|||A|||F|||20241203094445 OBR|19|7872697780^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|�mol/L/h|>=2.06|N|||F|||20241203094445 OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241203094445 OBR|20|7872697780^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241203094445 OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Positive|||A|||F|||20241203094445 OBR|21|7872697780^FormNumber||^^^99717-57^Guanidinoacetate methyltransferase Tier-2 newborn screening panel^L|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|5.25|�mol/L/h|<=5|H|||F|||20241203094445 OBR|22|7872697780^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241203094445 OBR|23|7872697780^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|�mol/L|<0.47|N|||F|||20241203094445 diff --git a/examples/Test/Automated/GoldenCopy/Input/006_ORU_R01_golden_copy_input_sma_incomplete.hl7 b/examples/Test/Automated/GoldenCopy/Input/006_ORU_R01_golden_copy_input_sma_incomplete.hl7 deleted file mode 100644 index 0c4469d8c..000000000 --- a/examples/Test/Automated/GoldenCopy/Input/006_ORU_R01_golden_copy_input_sma_incomplete.hl7 +++ /dev/null @@ -1,141 +0,0 @@ -MSH|^~\\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^9413799^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241017050025||ORU^R01^ORU_R01|006|N|2.5.1 -PID|1||32550867^^^1013163542&NPI^MR||*****PII REMOVED****** -NK1|1|*****PII REMOVED****** -ORC|RE|789876543^FormNumber||||||||||1164928032^MURUGESAN^CHEZHIYAN^^^^^^^NPI|||||||||KERN MEDICAL CENTER^^^^^^^^^R092|1700 MOUNT VERNON AVE^^BAKERSFIELD^CA^93306-4018 -OBR|1|789876543^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F -OBR|2|789876543^FormNumber||57128-1^Newborn Screening Report summary panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F -OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241017050025 -OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241017050025 -OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA12430-7^Out of range requiring further dried blood spot testing for at least one condition^LN|||N|||F|||20241017050025 -OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241017050025 -OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA22279-6^SMA^LN|||N|||F|||20241017050025 -OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\\.br\\\\.br\\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \\\2130 E Illinois Avenue, FRESNO, CA 93701\\.br\\\\.br\\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\\.br\\\\.br\\Lab Director - Genetic Disease Laboratory, (510) 231-1790\\.br\\\\.br\\Follow-up:\\.br\\\\.br\\Spinal Muscular Atrophy (SMA): The sample was not adequate to complete testing for SMA. A repeat NBS specimen MUST be collected. \\.br\\\\.br\\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Valley Children's Hospital at (559) 353-6416. \\.br\\\\.br\\Methods and Limitations:\\.br\\\\.br\\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \\.br\\Attention Healthcare Provider:\\.br\\\\.br\\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \\.br\\\\.br\\|||N|||F|||20241017050025 -OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241017050025 -OBR|3|789876543^FormNumber||57717-1^Newborn screen card data panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F -OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241017050025 -OBX|2|NM|8339-4^Birthweight^LN|1|2875|grams||N|||F|||20241017050025 -OBX|3|TM|57715-5^Time of birth^LN|1|0202|||N|||F|||20241017050025 -OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241017050025 -OBX|5|NM|73806-2^Newborn age in hours^LN|1|27|hour(s)||N|||F|||20241017050025 -OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241017050025 -OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241017050025 -OBX|8|TX|^^^99717-5^Accession Number^L|1|269-80-133/21-2024-21|||N|||F|||20241017050025 -OBX|9|TX|62324-9^Post-discharge provider name^LN|1|CHEZHIYAN MURUGESAN|||N|||F|||20241017050025 -OBX|10|TX|62325-6^Post-discharge provider practice ID^LN|1|1164928032|||N|||F|||20241017050025 -OBX|11|TX|62327-2^Post-discharge provider practice address^LN|1|1700 MOUNT VERNON AVE BAKERSFIELD CA 93306-4018 USA|||N|||F|||20241017050025 -OBR|4|789876543^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F -OBR|5|789876543^FormNumber||53261-4^Amino acid newborn screen panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F -OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|357|µmol/L||N|||F|||20241017050025 -OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|398|µmol/L|<1000|N|||F|||20241017050025 -OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|92.2|µmol/L||N|||F|||20241017050025 -OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|2.05804|{Ratio}|<4.3|N|||F|||20241017050025 -OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|84.2|µmol/L|<230|N|||F|||20241017050025 -OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.21|{Ratio}|<1.35|N|||F|||20241017050025 -OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|44.8|µmol/L|<175|N|||F|||20241017050025 -OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.55|{Ratio}|<2.6|N|||F|||20241017050025 -OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|81.7|µmol/L|<680|N|||F|||20241017050025 -OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|0.20|µmol/L|<6.1|N|||F|||20241017050025 -OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|11.1|µmol/L|6.3-100|N|||F|||20241017050025 -OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|12|µmol/L|5-49|N|||F|||20241017050025 -OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|1.72|{Ratio}|<4.8|N|||F|||20241017050025 -OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|77|µmol/L|<800|N|||F|||20241017050025 -OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|6.36|{Ratio}||N|||F|||20241017050025 -OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|7|µmol/L|<63|N|||F|||20241017050025 -OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.09|{Ratio}|<1.9|N|||F|||20241017050025 -OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|136|µmol/L|<1500|N|||F|||20241017050025 -OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241017050025 -OBR|6|789876543^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F -OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025 -OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241017050025 -OBR|7|789876543^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F -OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|16.4|µmol/L|6.4-125|N|||F|||20241017050025 -OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|3.65|{Ratio}|<70|N|||F|||20241017050025 -OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|16.1|µmol/L|10-80|N|||F|||20241017050025 -OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|2.06977|{Ratio}|<7.6|N|||F|||20241017050025 -OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.075|µmol/L|<0.95|N|||F|||20241017050025 -OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.049|µmol/L|<0.45|N|||F|||20241017050025 -OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|1.14|{Ratio}||N|||F|||20241017050025 -OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.042|µmol/L|<0.65|N|||F|||20241017050025 -OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.043|µmol/L|<0.65|N|||F|||20241017050025 -OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.026|µmol/L|<0.45|N|||F|||20241017050025 -OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|0.071|µmol/L|<2|N|||F|||20241017050025 -OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.05|µmol/L||N|||F|||20241017050025 -OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.169|µmol/L|<1.2|N|||F|||20241017050025 -OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.099|µmol/L|<0.9|N|||F|||20241017050025 -OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|1.98|{Ratio}||N|||F|||20241017050025 -OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.02|µmol/L||N|||F|||20241017050025 -OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.015|µmol/L|<0.2|N|||F|||20241017050025 -OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|2.91|µmol/L|<12|N|||F|||20241017050025 -OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.221|µmol/L|<1.4|N|||F|||20241017050025 -OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.021|µmol/L|<0.1|N|||F|||20241017050025 -OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.00722|{Ratio}|<0.07|N|||F|||20241017050025 -OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|0.827|µmol/L|<3.5|N|||F|||20241017050025 -OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|1.58|µmol/L|<7|N|||F|||20241017050025 -OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.14|µmol/L||N|||F|||20241017050025 -OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.013|µmol/L|<0.1|N|||F|||20241017050025 -OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.028|µmol/L|<0.1|N|||F|||20241017050025 -OBR|8|789876543^FormNumber||57085-3^Organic acid newborn screen panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F -OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|1.7|µmol/L|<7.9|N|||F|||20241017050025 -OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.10|{Ratio}|<0.42|N|||F|||20241017050025 -OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.089|µmol/L|<0.48|N|||F|||20241017050025 -OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.229|µmol/L|<1.7|N|||F|||20241017050025 -OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.081|µmol/L|<0.95|N|||F|||20241017050025 -OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.04765|{Ratio}|<0.38|N|||F|||20241017050025 -OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.005|µmol/L|<0.5|N|||F|||20241017050025 -OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.216|µmol/L|<1.15|N|||F|||20241017050025 -OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.080|µmol/L|<0.38|N|||F|||20241017050025 -OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|0.89888|{Ratio}|>0.1|N|||F|||20241017050025 -OBR|9|789876543^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F -OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|20.90|ng/mL|<69|N|||F|||20241017050025 -OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025 -OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241017050025 -OBR|10|789876543^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F -OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|00007.6|nmol/L|<85|N|||F|||20241017050025 -OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025 -OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241017050025 -OBR|11|789876543^FormNumber||54090-6^Thyroid newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F -OBX|1|NM|29575-8^Thyrotropin^LN|1|6.10|mIU/L|<29|N|||F|||20241017050025 -OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025 -OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241017050025 -OBR|12|789876543^FormNumber||54079-9^Galactosemia newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F -OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|173.29|enzyme units|>50|N|||F|||20241017050025 -OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025 -OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241017050025 -OBR|13|789876543^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F -OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241017050025 -OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241017050025 -OBR|14|789876543^FormNumber||57087-9^Biotinidase newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F -OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|45.57|ERU|>10|N|||F|||20241017050025 -OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025 -OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241017050025 -OBR|15|789876543^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F -OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|215|copies/µL|>18|N|||F|||20241017050025 -OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025 -OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241017050025 -OBR|16|789876543^FormNumber||63414-7^Pompe Disease newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F -OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|6.94|µmol/L/h|>=1.54|N|||F|||20241017050025 -OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025 -OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241017050025 -OBR|17|789876543^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F -OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|6.11|µmol/L/h|>=0.79|N|||F|||20241017050025 -OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025 -OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241017050025 -OBR|18|789876543^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F -OBX|1|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA12430-7^Out of range requiring further dried blood spot testing for at least one condition^LN|||A|||F|||20241017050025 -OBX|2|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Incomplete|||A|||F|||20241017050025 -OBR|19|789876543^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F -OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|25.27|µmol/L/h|>=2.91|N|||F|||20241017050025 -OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025 -OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241017050025 -OBR|20|789876543^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F -OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241017050025 -OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241017050025 -OBR|21|789876543^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F -OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|1.10|µmol/L|<=3|N|||F|||20241017050025 -OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|431.20|µmol/L||N|||F|||20241017050025 -OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|2.56||<=6|N|||F|||20241017050025 -OBR|22|789876543^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F -OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241017050025 -OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241017050025 -OBR|23|789876543^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202409240545|||||||||^MURUGESAN^CHEZHIYAN||||||20241017050025|||F -OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.242|µmol/L|<0.47|N|||F|||20241017050025 diff --git a/examples/Test/Automated/GoldenCopy/Input/007_CA_ORU_R01_CDPH_UCSD_189717091_80015955_pre_TI_TC007A.hl7 b/examples/Test/Automated/GoldenCopy/Input/007_CA_ORU_R01_CDPH_UCSD_189717091_80015955_pre_TI_TC007A.hl7 new file mode 100644 index 000000000..1c6a29d54 --- /dev/null +++ b/examples/Test/Automated/GoldenCopy/Input/007_CA_ORU_R01_CDPH_UCSD_189717091_80015955_pre_TI_TC007A.hl7 @@ -0,0 +1 @@ +MSH|^~\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241206093739||ORU^R01^ORU_R01|007|N|2.5.1 PID|1||80015955^^^&NPI^MR||INTERFACE^BOY A CDPHONE^^^^^B||202411180830|M||2028-9^Asian||||||||||||2186-5^Not Hispanic or Latino||Y|1 NK1|1|INTERFACE^CDPHONE|MTH^Mother|456 ST^^SAN DIEGO^CA^92123^USA|^^^^^858^2490016|||||||||||19921118 ORC|RE|7902698491^FormNumber||189717091^HospOrdNumber||||||||1427255868^JOHNSON^KATHRYN^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|7902698491^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBR|2|7902698491^FormNumber||57128-1^Newborn Screening Report summary panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241206093739 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241206093739 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241206093739 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA12566-8^SCID^LN|||N|||F|||20241206093739 OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241206093739 OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\SCID: A liquid blood specimen for CBC differential and flow cytometry at Quest Diagnostics is required to rule out or confirm SCID or a related immune disorder. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241206093739 OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241206093739 OBR|3|7902698491^FormNumber||57717-1^Newborn screen card data panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241206093739 OBX|2|NM|8339-4^Birthweight^LN|1|2722|grams||N|||F|||20241206093739 OBX|3|TM|57715-5^Time of birth^LN|1|0830|||N|||F|||20241206093739 OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241206093739 OBX|5|NM|73806-2^Newborn age in hours^LN|1|73|hour(s)||N|||F|||20241206093739 OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241206093739 OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241206093739 OBX|8|TX|^^^99717-5^Accession Number^L|1|326-65-211/21-2024-21|||N|||F|||20241206093739 OBX|9|TX|62324-9^Post-discharge provider name^LN|1|KRISHELLE MARC-AURELE|||N|||F|||20241206093739 OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241206093739 OBR|4|7902698491^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBR|5|7902698491^FormNumber||53261-4^Amino acid newborn screen panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241206093739 OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|�mol/L|<1000|N|||F|||20241206093739 OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241206093739 OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241206093739 OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|�mol/L|<230|N|||F|||20241206093739 OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241206093739 OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|�mol/L|<175|N|||F|||20241206093739 OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241206093739 OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|�mol/L|<680|N|||F|||20241206093739 OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|�mol/L|<6.1|N|||F|||20241206093739 OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|�mol/L|6.3-100|N|||F|||20241206093739 OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|�mol/L|5-49|N|||F|||20241206093739 OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241206093739 OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|�mol/L|<800|N|||F|||20241206093739 OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241206093739 OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|�mol/L|<63|N|||F|||20241206093739 OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241206093739 OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|�mol/L|<1500|N|||F|||20241206093739 OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|6|7902698491^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|7|7902698491^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|33|�mol/L|6.4-125|N|||F|||20241206093739 OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241206093739 OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|�mol/L|10-80|N|||F|||20241206093739 OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241206093739 OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|�mol/L|<0.95|N|||F|||20241206093739 OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|�mol/L|<0.45|N|||F|||20241206093739 OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241206093739 OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|�mol/L|<0.65|N|||F|||20241206093739 OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|�mol/L|<0.65|N|||F|||20241206093739 OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|�mol/L|<0.45|N|||F|||20241206093739 OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|�mol/L|<2|N|||F|||20241206093739 OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|�mol/L||N|||F|||20241206093739 OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|�mol/L|<1.2|N|||F|||20241206093739 OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|�mol/L|<0.9|N|||F|||20241206093739 OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241206093739 OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|�mol/L||N|||F|||20241206093739 OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|�mol/L|<0.2|N|||F|||20241206093739 OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|�mol/L|<12|N|||F|||20241206093739 OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|�mol/L|<1.4|N|||F|||20241206093739 OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241206093739 OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241206093739 OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|�mol/L|<3.5|N|||F|||20241206093739 OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|�mol/L|<7|N|||F|||20241206093739 OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|�mol/L||N|||F|||20241206093739 OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241206093739 OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241206093739 OBR|8|7902698491^FormNumber||57085-3^Organic acid newborn screen panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|�mol/L|<7.9|N|||F|||20241206093739 OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241206093739 OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|�mol/L|<0.48|N|||F|||20241206093739 OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|�mol/L|<1.7|N|||F|||20241206093739 OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|�mol/L|<0.95|N|||F|||20241206093739 OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241206093739 OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|�mol/L|<0.5|N|||F|||20241206093739 OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|�mol/L|<1.15|N|||F|||20241206093739 OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|�mol/L|<0.38|N|||F|||20241206093739 OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241206093739 OBR|9|7902698491^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241206093739 OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|10|7902698491^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<85|N|||F|||20241206093739 OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|11|7902698491^FormNumber||54090-6^Thyroid newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241206093739 OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|12|7902698491^FormNumber||54079-9^Galactosemia newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|55.00|enzyme units|>50|N|||F|||20241206093739 OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|13|7902698491^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241206093739 OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.�These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241206093739 OBR|14|7902698491^FormNumber||57087-9^Biotinidase newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241206093739 OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|15|7902698491^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|2|copies/�L|>18|L|||F|||20241206093739 OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241206093739 OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241206093739 OBR|16|7902698491^FormNumber||63414-7^Pompe Disease newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|�mol/L/h|>=18.2|N|||F|||20241206093739 OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|17|7902698491^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|�mol/L/h|>=18.2|N|||F|||20241206093739 OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|18|7902698491^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241206093739 OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241206093739 OBR|19|7902698491^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|�mol/L/h|>=2.06|N|||F|||20241206093739 OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|20|7902698491^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|21|7902698491^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|�mol/L|<=3|N|||F|||20241206093739 OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|�mol/L||N|||F|||20241206093739 OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20241206093739 OBR|22|7902698491^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241206093739 OBR|23|7902698491^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|�mol/L|<0.47|N|||F|||20241206093739 diff --git a/examples/Test/Automated/GoldenCopy/Input/008_CA_ORU_R01_CDPH_UCSD_MRN_80015955_pre_TI_TC007B.hl7 b/examples/Test/Automated/GoldenCopy/Input/008_CA_ORU_R01_CDPH_UCSD_MRN_80015955_pre_TI_TC007B.hl7 new file mode 100644 index 000000000..119d43a67 --- /dev/null +++ b/examples/Test/Automated/GoldenCopy/Input/008_CA_ORU_R01_CDPH_UCSD_MRN_80015955_pre_TI_TC007B.hl7 @@ -0,0 +1 @@ +MSH|^~\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241206093739||ORU^R01^ORU_R01|008|N|2.5.1 PID|1||80015955^^^&NPI^MR||INTERFACE^BOY A CDPHONE^^^^^B||202411180830|M||2131-1^Other Race||||||||||||UNK^Unknown||Y|1 NK1|1|INTERFACE^CDPHONE|MTH^Mother|456 ST^^SAN DIEGO^CA^92123^USA|^^^^^858^2490016|||||||||||19921118 ORC|RE|7902698491^FormNumber||^HospOrdNumber||||||||1427255868^JOHNSON^KATHRYN^^^^^^^^^^NPI|||||||||^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|7902698491^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202411021023|||||||202411031023||||||||20241206093739|||F OBR|2|7902698491^FormNumber||57128-1^Newborn Screening Report summary panel|||202411021023|||||||202411031023||||||||20241206093739|||F OBX|1|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\Testing Lab - Quest \R\ S W 0094DVLB TESNU, SAN JUAN CAPISTRANO, CA 99999-9999\.br\\.br\Lab Director - Daisydoublek Toulousep, MD,PhD, Quest, (491)154-5445\.br\\.br\SCID Reviewer - Meadowsaffronpa Maxrm\.br\\.br\Lab Remarks: CD3/CD8/CD45RO, Percent:This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics Nichols Institute San Juan Capistrano. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes. \.br\\.br\Follow-up:\.br\\.br\Clinical Reviewer Comments: Testing\.br\\.br\Follow-up Recommendation: Refer to CCS-approved Immunology Center\.br\\.br\Disclaimer:\.br\\.br\This test was developed and its performance characteristics have been determined by Quest Diagnostics Nichols Institute, San Juan Capistrano. It has not been cleared or approved by the U.S. Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. Performance characteristics refer to the analytical performance of the test. \.br\\.br\|||N|||F|||20241206093739 OBR|3|7902698491^FormNumber||57717-1^Newborn screen card data panel|||202411021023|||||||202411031023||||||||20241206093739|||F OBX|1|TM|57715-5^Time of birth^LN|1|0830|||N|||F|||20241206093739 OBX|2|NM|73806-2^Newborn age in hours^LN|1|73|hour(s)||N|||F|||20241206093739 OBX|3|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241206093739 OBR|4|7902698491^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202411021023|||||||202411031023||||||||20241206093739|||F OBR|5|7902698491^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202411021023|||||||202411031023||||||||20241206093739|||F OBX|1|NM|6690-2^Leukocytes [#/volume] in Blood by Automated count^LN|1|45.1|Thousand/uL|9.0-30.0|H|||F|||20241206093739 OBX|2|NM|789-8^Erythrocytes [#/volume] in Blood by Automated count^LN|1|4.25|Million/uL|3.90-5.90||||F|||20241206093739 OBX|3|NM|718-7^Hemoglobin [Mass/volume] in Blood^LN|1|18.1|g/dL|13.4-19.9||||F|||20241206093739 OBX|4|NM|4544-3^Hematocrit [Volume Fraction] of Blood by Automated count^LN|1|50.1|%|42.0-65.0||||F|||20241206093739 OBX|5|NM|787-2^Erythrocyte mean corpuscular volume [Entitic volume] by Automated count^LN|1|100.0|fL|88.0-123.0||||F|||20241206093739 OBX|6|NM|785-6^Erythrocyte mean corpuscular hemoglobin [Entitic mass] by Automated count^LN|1|35.1|pg|31.0-37.0||||F|||20241206093739 OBX|7|NM|786-4^Erythrocyte mean corpuscular hemoglobin concentration [Mass/volume] by Automated count^LN|1|30.2|g/dL|28.0-36.0||||F|||20241206093739 OBX|8|NM|777-3^Platelets [#/volume] in Blood by Automated count^LN|1|200|Thousand/uL|150-450||||F|||20241206093739 OBX|9|NM|776-5^Platelet mean volume [Entitic volume] in Blood by Rees-Ecker^LN|1|11.1|fL|7.5-12.5||||F|||20241206093739 OBX|10|NM|788-0^Erythrocyte distribution width [Ratio] by Automated count^LN|1|14.1|%|13.0-18.0||||F|||20241206093739 OBX|11|NM|751-8^Neutrophils [#/volume] in Blood by Automated count^LN|1|7000|cells/uL|5000-21000||||F|||20241206093739 OBX|12|NM|26507-4^Neutrophils.band form [#/volume] in Blood^LN^29153|1|3000|cells/uL|1500-4200||||F|||20241206093739 OBX|13|NM|30433-7^Metamyelocytes [#/volume] in Blood^LN^29154|1|1|cells/uL|0|H|||F|||20241206093739 OBX|14|NM|30446-9^Myelocytes [#/volume] in Blood^LN^29162|1|0|cells/uL|0||||F|||20241206093739 OBX|15|NM|26523-1^Promyelocytes [#/volume] in Blood^LN^29163|1|0|cells/uL|0||||F|||20241206093739 OBX|16|NM|731-0^Lymphocytes [#/volume] in Blood by Automated count^LN^29164|1|6000|cells/uL|2000-11500||||F|||20241206093739 OBX|17|NM|742-7^Monocytes [#/volume] in Blood by Automated count^LN^29165|1|1200|cells/uL|300-2400||||F|||20241206093739 OBX|18|NM|711-2^Eosinophils [#/volume] in Blood by Automated count^LN^29166|1|600|cells/uL|15-800||||F|||20241206093739 OBX|19|NM|704-7^Basophils [#/volume] in Blood by Automated count^LN^29167|1|200|cells/uL|0-300||||F|||20241206093739 OBX|20|NM|30376-8^Blasts [#/volume] in Blood^LN^29168|1|0|cells/uL|0||||F|||20241206093739 OBX|21|NM|30392-5^Nucleated erythrocytes [#/volume] in Blood^LN^29169|1|300|cells/uL|0-5000||||F|||20241206093739 OBX|22|NM|770-8^Neutrophils/100 leukocytes in Blood by Automated count^LN^29170|1|20|%|||||F|||20241206093739 OBX|23|NM|26508-2^Neutrophils.band form/100 leukocytes in Blood^LN^29171|1|2|%|||||F|||20241206093739 OBX|24|NM|28541-1^Metamyelocytes/100 leukocytes in Blood^LN^29172|1|1|%|||||F|||20241206093739 OBX|25|NM|26498-6^Myelocytes/100 leukocytes in Blood^LN^29173|1|1|%|||||F|||20241206093739 OBX|26|NM|26524-9^Promyelocytes/100 leukocytes in Blood^LN^29174|1|1|%|||||F|||20241206093739 OBX|27|NM|736-9^Lymphocytes/100 leukocytes in Blood by Automated count^LN^29175|1|1|%|||||F|||20241206093739 OBX|28|NM|13046-8^Lymphocytes Variant/100 leukocytes in Blood^LN^29176|1|1|%|0-10||||F|||20241206093739 OBX|29|NM|5905-5^Monocytes/100 leukocytes in Blood by Automated count^LN^29177|1|1|%|||||F|||20241206093739 OBX|30|NM|713-8^Eosinophils/100 leukocytes in Blood by Automated count^LN^29178|1|1|%|||||F|||20241206093739 OBX|31|NM|706-2^Basophils/100 leukocytes in Blood by Automated count^LN^29179|1|1|%|||||F|||20241206093739 OBX|32|NM|26446-5^Blasts/100 leukocytes in Blood^LN^29180|1|1|%|||||F|||20241206093739 OBX|33|NM|19048-8^Nucleated erythrocytes/100 leukocytes [Ratio] in Blood^LN^29181|1|1|/100 WBC|0|H|||F|||20241206093739 OBX|34|NM|8122-4^CD3 cells [#/volume] in Blood^LN^86007711^CD3+ T-Cells, Absolute^L|1|3000|cells/uL|2500-5500||||F|||20241206093739 OBX|35|NM|8124-0^CD3 cells/100 cells in Blood^LN^86007712^CD3+ T-Cells, Percent^L|1|60|% of Lymphs|53-84||||F|||20241206093739 OBX|36|NM|24467-3^CD3+CD4+ (T4 helper) cells [#/volume] in Blood^LN^86007713^CD3+/CD4+ T-Helper, Abs^L|1|2000|cells/uL|1600-4000||||F|||20241206093739 OBX|37|NM|8123-2^CD3+CD4+ (T4 helper) cells/100 cells in Blood^LN^86007714^CD3+/CD4+ T-Helper,Percent^L|1|40|% of Lymphs|35-64||||F|||20241206093739 OBX|38|NM|14135-8^CD3+CD8+ (T8 suppressor cells) cells [#/volume] in Blood^LN^86007715^CD3+/CD8+ T-Cytotoxic, Abs^L|1|1000|cells/uL|560-1700||||F|||20241206093739 OBX|39|NM|8101-8^CD3+CD8+ (T8 suppressor cells) cells/100 cells in Blood^LN^86007716^CD3+/CD8+T-Cytotox,Percent^L|1|15|% of Lymphs|12-28||||F|||20241206093739 OBX|40|NM|8116-6^CD19 cells [#/volume] in Blood^LN^86007717^CD19+ B-cells, Absolute^L|1|500|cells/uL|300-2000||||F|||20241206093739 OBX|41|NM|8117-4^CD19 cells/100 cells in Blood^LN^86007718^CD19+ B-cells, Percent^L|1|10|% of Lymphs|6-32||||F|||20241206093739 OBX|42|NM|9728-7^CD16C+CD56+ cells [#/volume] in Blood^LN^86007719^CD16/CD56 NK-cells, Abs^L|1|200|cells/uL|170-1100||||F|||20241206093739 OBX|43|NM|8112-5^CD16+CD56+ cells/100 cells in Blood^LN^86007720^CD16/CD56 NK-cells,Percent^L|1|9|% of Lymphs|4-18||||F|||20241206093739 OBX|44|NM|26759-1^CD4+CD45RA+cells [#/volume] in Blood^LN^86007721^CD3/CD4/CD45RA, Absolute^L|1|1500|cells/uL|1200-3700||||F|||20241206093739 OBX|45|NM|13336-3^CD4+CD45RA+cells/100 cells in Blood^LN^^CD3/CD4/CD45RA, Percent^L|1|8|% CD4|||||F|||20241206093739 OBX|46|NM|82743-6^CD8+CD45RA+ Cells # Bld^LN^86007723^CD3/CD8/CD45RA, Absolute^L|1|600|cells/uL|450-1500||||F|||20241206093739 OBX|47|NM|82744-4^CD8+CD45RA+ Cells/100 CD8 NFr Bld^LN^86007724^CD3/CD8/CD45RA, Percent^L|1|10|% CD8|||||F|||20241206093739 OBX|48|NM|85792-0^CD3+CD4+CD45RO+ # Bld^LN^86007725^CD3/CD4/CD45RO, Absolute^L|1|500|cells/uL|60-900||||F|||20241206093739 OBX|49|NM|85791-2^CD3+CD4+CD45RO+/100 CD3 NFr Bld^LN^86007726^CD3/CD4/CD45RO, Percent^L|1|5|% CD4|2-22||||F|||20241206093739 OBX|50|NM|85790-4^CD3+CD8+CD45RO+ # Bld^LN^86007727^CD3/CD8/CD45RO, Absolute^L|1|50|cells/uL|30-330||||F|||20241206093739 OBX|51|NM|85789-6^CD3+CD8+CD45RO+/100 CD3 NFr Bld^LN^86007728^CD3/CD8/CD45RO, Percent^L|1|2|% CD8|1-9||||F|||20241206093739 OBX|52|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241206093739 OBX|53|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Refer to CCS-approved Immunology Center|||A|||F|||20241206093739 diff --git a/examples/Test/Automated/GoldenCopy/Input/009_CA_ORU_R01_CDPH_UCSD_MRN_80009320_pre_TI_TC001_Corrected.hl7 b/examples/Test/Automated/GoldenCopy/Input/009_CA_ORU_R01_CDPH_UCSD_MRN_80009320_pre_TI_TC001_Corrected.hl7 new file mode 100644 index 000000000..a16c55aa1 --- /dev/null +++ b/examples/Test/Automated/GoldenCopy/Input/009_CA_ORU_R01_CDPH_UCSD_MRN_80009320_pre_TI_TC001_Corrected.hl7 @@ -0,0 +1 @@ +MSH|^~\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241211115659||ORU^R01^ORU_R01|009|N|2.5.1 PID|1||80009320^^^&NPI^MR||NEWBORNSCREEN^BOY RED^^^^^B||202408150826|M||1002-5^American Indian or Alaska Native||||||||||||2186-5^Not Hispanic or Latino||N|1 NK1|1|NEWBORNSCREEN^RED|MTH^Mother|9560 TOWNE CENTRE DR^^SAN DIEGO^CA^92121-1972^USA|^^^^^619^1234567|||||||||||19850426 ORC|RE|7341237093^FormNumber||189671588^HospOrdNumber||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|7341237093^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBR|2|7341237093^FormNumber||57128-1^Newborn Screening Report summary panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241211115659 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241211115659 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241211115659 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA12543-7^GALT^LN|||N|||F|||20241211115659 OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241211115659 OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\Acyl Carnitine Panel: Reference Ranges for acylcarnitines are based on specimens collected on newborns who are less than 10 days old. \.br\\.br\Galactosemia: Additional testing is required to rule out disorder.�Call your Newborn Screening Coordinator for assistance. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241211115659 OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241211115659 OBR|3|7341237093^FormNumber||57717-1^Newborn screen card data panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241211115659 OBX|2|NM|8339-4^Birthweight^LN|1|3084|grams||N|||F|||20241211115659 OBX|3|TM|57715-5^Time of birth^LN|1|0826|||N|||F|||20241211115659 OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241211115659 OBX|5|NM|73806-2^Newborn age in hours^LN|1|46|day(s)||N|||F|||20241211115659 OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241211115659 OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241211115659 OBX|8|TX|^^^99717-5^Accession Number^L|1|275-71-453/21-2024-21|||N|||F|||20241211115659 OBX|9|TX|62324-9^Post-discharge provider name^LN|1|MARVIN ZAGULI|||N|||F|||20241211115659 OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241211115659 OBR|4|7341237093^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBR|5|7341237093^FormNumber||53261-4^Amino acid newborn screen panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241211115659 OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|�mol/L|<1000|N|||F|||20241211115659 OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241211115659 OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241211115659 OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|�mol/L|<230|N|||F|||20241211115659 OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241211115659 OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|�mol/L|<175|N|||F|||20241211115659 OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241211115659 OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|�mol/L|<680|N|||F|||20241211115659 OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|�mol/L|<6.1|N|||F|||20241211115659 OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|�mol/L|6.3-100|N|||F|||20241211115659 OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|�mol/L|5-49|N|||F|||20241211115659 OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241211115659 OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|�mol/L|<800|N|||F|||20241211115659 OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241211115659 OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|�mol/L|<63|N|||F|||20241211115659 OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241211115659 OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|�mol/L|<1500|N|||F|||20241211115659 OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|6|7341237093^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|7|7341237093^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|33|�mol/L|6.4-125|N|||F|||20241211115659 OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241211115659 OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|�mol/L|10-80|N|||F|||20241211115659 OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241211115659 OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|�mol/L|<0.95|N|||F|||20241211115659 OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|�mol/L|<0.45|N|||F|||20241211115659 OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241211115659 OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|�mol/L|<0.65|N|||F|||20241211115659 OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|�mol/L|<0.65|N|||F|||20241211115659 OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|�mol/L|<0.45|N|||F|||20241211115659 OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|�mol/L|<2|N|||F|||20241211115659 OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|�mol/L||N|||F|||20241211115659 OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|�mol/L|<1.2|N|||F|||20241211115659 OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|�mol/L|<0.9|N|||F|||20241211115659 OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241211115659 OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|�mol/L||N|||F|||20241211115659 OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|�mol/L|<0.2|N|||F|||20241211115659 OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|�mol/L|<12|N|||F|||20241211115659 OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|�mol/L|<1.4|N|||F|||20241211115659 OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241211115659 OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241211115659 OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|�mol/L|<3.5|N|||F|||20241211115659 OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|�mol/L|<7|N|||F|||20241211115659 OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|�mol/L||N|||F|||20241211115659 OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241211115659 OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241211115659 OBR|8|7341237093^FormNumber||57085-3^Organic acid newborn screen panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|�mol/L|<7.9|N|||F|||20241211115659 OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241211115659 OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|�mol/L|<0.48|N|||F|||20241211115659 OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|�mol/L|<1.7|N|||F|||20241211115659 OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|�mol/L|<0.95|N|||F|||20241211115659 OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241211115659 OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|�mol/L|<0.5|N|||F|||20241211115659 OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|�mol/L|<1.15|N|||F|||20241211115659 OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|�mol/L|<0.38|N|||F|||20241211115659 OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241211115659 OBR|9|7341237093^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241211115659 OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|10|7341237093^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<85|N|||F|||20241211115659 OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|11|7341237093^FormNumber||54090-6^Thyroid newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241211115659 OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|12|7341237093^FormNumber||54079-9^Galactosemia newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|48.00|enzyme units|>50|L|||F|||20241211115659 OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241211115659 OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241211115659 OBR|13|7341237093^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241211115659 OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.�These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241211115659 OBR|14|7341237093^FormNumber||57087-9^Biotinidase newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241211115659 OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|15|7341237093^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/�L|>18|N|||F|||20241211115659 OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|16|7341237093^FormNumber||63414-7^Pompe Disease newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|�mol/L/h|>=18.2|N|||F|||20241211115659 OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|17|7341237093^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|�mol/L/h|>=18.2|N|||F|||20241211115659 OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|18|7341237093^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241211115659 OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241211115659 OBR|19|7341237093^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|�mol/L/h|>=2.06|N|||F|||20241211115659 OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|20|7341237093^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|21|7341237093^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|�mol/L|<=3|N|||F|||20241211115659 OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|�mol/L||N|||F|||20241211115659 OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20241211115659 OBR|22|7341237093^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241211115659 OBR|23|7341237093^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|�mol/L|<0.47|N|||F|||20241211115659 diff --git a/examples/Test/Automated/GoldenCopy/Input/010_CA_ORU_R01_CDPH_UCSD_MRN_80015980_pre_TI_TC006.hl7 b/examples/Test/Automated/GoldenCopy/Input/010_CA_ORU_R01_CDPH_UCSD_MRN_80015980_pre_TI_TC006.hl7 new file mode 100644 index 000000000..2d0eddb65 --- /dev/null +++ b/examples/Test/Automated/GoldenCopy/Input/010_CA_ORU_R01_CDPH_UCSD_MRN_80015980_pre_TI_TC006.hl7 @@ -0,0 +1 @@ +MSH|^~\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241211110818||ORU^R01^ORU_R01|010|N|2.5.1 PID|1||80015980^^^&NPI^MR||HIPPO^BOY A ALLIE^^^^^B||202412091336|M||2106-3^White||||||||||||2186-5^Not Hispanic or Latino||Y|1 NK1|1|HIPPO^ALLIE|MTH^Mother|518 BIG BEN WAY^^OCEANSIDE^CA^92058^USA|^^^^^442^2885325|||||||||||19941209 ORC|RE|7302692465^FormNumber||189728187^HospOrdNumber||||||||1427255868^JOHNSON^KATHRYN^^^^^^^^^^NPI|||||||||UC SAN DIEGO MEDICAL CENTER^^^^^^^^^R508|W 025TS HT71 , C #^^SAN DIEGO^CA^99999-9999 OBR|1|7302692465^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBR|2|7302692465^FormNumber||57128-1^Newborn Screening Report summary panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241211110818 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241211110818 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241211110818 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA12533-8^CAH^LN|||N|||F|||20241211110818 OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241211110818 OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\CAH: An immediate referral to a CCS endocrine center or pediatric endocrinologist, for evaluation and additional testing, is strongly recommended. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Screen for CAH based on 17-OH P level and a steroid ratio level. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241211110818 OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241211110818 OBR|3|7302692465^FormNumber||57717-1^Newborn screen card data panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241211110818 OBX|2|NM|8339-4^Birthweight^LN|1|2722|grams||N|||F|||20241211110818 OBX|3|TM|57715-5^Time of birth^LN|1|1336|||N|||F|||20241211110818 OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241211110818 OBX|5|NM|73806-2^Newborn age in hours^LN|1|24|hour(s)||N|||F|||20241211110818 OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241211110818 OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241211110818 OBX|8|TX|^^^99717-5^Accession Number^L|1|346-10-795/21-2024-21|||N|||F|||20241211110818 OBX|9|TX|62324-9^Post-discharge provider name^LN|1|MARVIN ZAGULI|||N|||F|||20241211110818 OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|W 025TS HT71 , C # SAN DIEGO CA 99999-9999 USA|||N|||F|||20241211110818 OBR|4|7302692465^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBR|5|7302692465^FormNumber||53261-4^Amino acid newborn screen panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241211110818 OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|�mol/L|<1000|N|||F|||20241211110818 OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241211110818 OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241211110818 OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|�mol/L|<230|N|||F|||20241211110818 OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241211110818 OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|�mol/L|<175|N|||F|||20241211110818 OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241211110818 OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|�mol/L|<680|N|||F|||20241211110818 OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|�mol/L|<6.1|N|||F|||20241211110818 OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|�mol/L|6.3-100|N|||F|||20241211110818 OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|�mol/L|5-49|N|||F|||20241211110818 OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241211110818 OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|�mol/L|<800|N|||F|||20241211110818 OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241211110818 OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|�mol/L|<63|N|||F|||20241211110818 OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241211110818 OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|�mol/L|<1500|N|||F|||20241211110818 OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|6|7302692465^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|7|7302692465^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|33|�mol/L|6.4-125|N|||F|||20241211110818 OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241211110818 OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|�mol/L|10-80|N|||F|||20241211110818 OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241211110818 OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|�mol/L|<0.95|N|||F|||20241211110818 OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|�mol/L|<0.45|N|||F|||20241211110818 OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241211110818 OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|�mol/L|<0.65|N|||F|||20241211110818 OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|�mol/L|<0.65|N|||F|||20241211110818 OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|�mol/L|<0.45|N|||F|||20241211110818 OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|�mol/L|<2|N|||F|||20241211110818 OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|�mol/L||N|||F|||20241211110818 OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|�mol/L|<1.2|N|||F|||20241211110818 OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|�mol/L|<0.9|N|||F|||20241211110818 OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241211110818 OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|�mol/L||N|||F|||20241211110818 OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|�mol/L|<0.2|N|||F|||20241211110818 OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|�mol/L|<12|N|||F|||20241211110818 OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|�mol/L|<1.4|N|||F|||20241211110818 OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241211110818 OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241211110818 OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|�mol/L|<3.5|N|||F|||20241211110818 OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|�mol/L|<7|N|||F|||20241211110818 OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|�mol/L||N|||F|||20241211110818 OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241211110818 OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241211110818 OBR|8|7302692465^FormNumber||57085-3^Organic acid newborn screen panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|�mol/L|<7.9|N|||F|||20241211110818 OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241211110818 OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|�mol/L|<0.48|N|||F|||20241211110818 OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|�mol/L|<1.7|N|||F|||20241211110818 OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|�mol/L|<0.95|N|||F|||20241211110818 OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241211110818 OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|�mol/L|<0.5|N|||F|||20241211110818 OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|�mol/L|<1.15|N|||F|||20241211110818 OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|�mol/L|<0.38|N|||F|||20241211110818 OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241211110818 OBR|9|7302692465^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241211110818 OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|10|7302692465^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|0065.88|nmol/L|<85|N|||F|||20241211110818 OBX|2|NM|^^^99717-6^17-Hydroxyprogesterone (CAH II)^L|1|39|nmol/L|<38|H|||F|||20241211110818 OBX|3|NM|53343-0^Androstenedione^LN|1|40.15|nmol/L||N|||F|||20241211110818 OBX|4|NM|53345-5^Cortisol^LN|1|85|nmol/L||N|||F|||20241211110818 OBX|5|NM|53336-4^17-Hydroxyprogesterone+Androstenedione/Cortisol^LN|1|0.93|{Ratio}|<1|N|||F|||20241211110818 OBX|6|NM|53341-4^21-Deoxycortisol [Mass/volume] in Dried blood spot^LN|1|90.9|nmol/L|<5|H|||F|||20241211110818 OBX|7|NM|53347-1^11-Deoxycorticosterone [Mass/volume] in Dried blood spot^LN|1|590|nmol/L|<240|H|||F|||20241211110818 OBX|8|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241211110818 OBX|9|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241211110818 OBR|11|7302692465^FormNumber||54090-6^Thyroid newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241211110818 OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|12|7302692465^FormNumber||54079-9^Galactosemia newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|55.00|enzyme units|>50|N|||F|||20241211110818 OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|13|7302692465^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241211110818 OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.�These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241211110818 OBR|14|7302692465^FormNumber||57087-9^Biotinidase newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241211110818 OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|15|7302692465^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/�L|>18|N|||F|||20241211110818 OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|16|7302692465^FormNumber||63414-7^Pompe Disease newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|�mol/L/h|>=18.2|N|||F|||20241211110818 OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|17|7302692465^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|�mol/L/h|>=18.2|N|||F|||20241211110818 OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|18|7302692465^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241211110818 OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241211110818 OBR|19|7302692465^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|�mol/L/h|>=2.06|N|||F|||20241211110818 OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|20|7302692465^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|21|7302692465^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|�mol/L|<=3|N|||F|||20241211110818 OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|�mol/L||N|||F|||20241211110818 OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20241211110818 OBR|22|7302692465^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241211110818 OBR|23|7302692465^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|�mol/L|<0.47|N|||F|||20241211110818 diff --git a/examples/Test/Automated/GoldenCopy/Input/011_CA_ORU_R01_CDPH_UCSD_MRN_80015981_pre_TI_TC008.hl7 b/examples/Test/Automated/GoldenCopy/Input/011_CA_ORU_R01_CDPH_UCSD_MRN_80015981_pre_TI_TC008.hl7 new file mode 100644 index 000000000..f1170f0a7 --- /dev/null +++ b/examples/Test/Automated/GoldenCopy/Input/011_CA_ORU_R01_CDPH_UCSD_MRN_80015981_pre_TI_TC008.hl7 @@ -0,0 +1 @@ +MSH|^~\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241211104422||ORU^R01^ORU_R01|011|N|2.5.1 PID|1||80015981^^^&NPI^MR||HIPPO^BOY B ALLIE^^^^^B||202412091336|M||2106-3^White||||||||||||2186-5^Not Hispanic or Latino||Y|2 NK1|1|HIPPO^ALLIE|MTH^Mother|518 BIG BEN WAY^^OCEANSIDE^CA^92058^USA|^^^^^442^2885325|||||||||||19941209 ORC|RE|7322694174^FormNumber||189728238^HospOrdNumber||||||||1427255868^JOHNSON^KATHRYN^^^^^^^^^^NPI|||||||||UC SAN DIEGO MEDICAL CENTER^^^^^^^^^R508|W 025TS HT71 , C #^^SAN DIEGO^CA^99999-9999 OBR|1|7322694174^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202412101414|||||||||^JOHNSON^KATHRYN||||||20241211104422|||F OBR|2|7322694174^FormNumber||57128-1^Newborn Screening Report summary panel|||202412101414|||||||||^JOHNSON^KATHRYN||||||20241211104422|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12427-3^Subsequent screen - for clarification of initial results (not by law or protocol)^LN|||N|||F|||20241211104422 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12443-0^Specimen quantity insufficient for testing^LN|||N|||F|||20241211104422 OBX|3|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241211104422 OBX|4|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241211104422 OBX|5|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\ NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\** This specimen was inadequate for testing for the following reason: ** 13 - Specimen not collected on acceptable filter paper including expired form THE PHYSICIAN LISTED HAS BEEN NOTIFIED \.br\\.br\|||N|||F|||20241211104422 OBX|6|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241211104422 OBR|3|7322694174^FormNumber||57717-1^Newborn screen card data panel|||202412101414|||||||||^JOHNSON^KATHRYN||||||20241211104422|||F OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241211104422 OBX|2|NM|8339-4^Birthweight^LN|1|2812|grams||N|||F|||20241211104422 OBX|3|TM|57715-5^Time of birth^LN|1|1336|||N|||F|||20241211104422 OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12412-5^Twins^LN|||N|||F|||20241211104422 OBX|5|NM|73806-2^Newborn age in hours^LN|1|24|hour(s)||N|||F|||20241211104422 OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241211104422 OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241211104422 OBX|8|TX|^^^99717-5^Accession Number^L|1|346-07-783/21-2024-21|||N|||F|||20241211104422 OBX|9|TX|62324-9^Post-discharge provider name^LN|1|EUSTRATIA HUBBARD|||N|||F|||20241211104422 OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|W 025TS HT71 , C # SAN DIEGO CA 99999-9999 USA|||N|||F|||20241211104422 OBR|4|7322694174^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202412101414|||||||||^JOHNSON^KATHRYN||||||20241211104422|||F diff --git a/examples/Test/Automated/GoldenCopy/README.md b/examples/Test/Automated/GoldenCopy/README.md index 74cee7714..b6ea68a26 100644 --- a/examples/Test/Automated/GoldenCopy/README.md +++ b/examples/Test/Automated/GoldenCopy/README.md @@ -17,14 +17,3 @@ The files are required to: - We format `MSH-10` based on the file index, like `001` (or `AUTOMATEDTEST-001` for UCSD) - `MSH-11` needs to have a value of `N` - `MSH-3` needs to be `GOLDEN-COPY` - -## Corresponding File Names - -The files map to each test scenario with the following naming: - -- 001_ORU_R01_golden_copy_input_acylc_1.hl7 -> Acylcarnitine - Indeterminate - SCADD - IBCDD patterns.hl7 -- 002_ORU_R01_golden_copy_input_acylc_2.hl7 -> Acylcarnitine - Indeterminate_2nd_example.hl7 -- 003_ORU_R01_golden_copy_input_aa_unusual.hl7 -> Amino Acid - Unusual Pattern.hl7.hl7 -- 004_ORU_R01_golden_copy_input_in_range.hl7 -> Out of Range - Hemoglobinopathies - Positive Marker.hl7 -- 005_ORU_R01_golden_copy_input_out_of_range.hl7 -> In range example.hl7 -- 006_ORU_R01_golden_copy_input_sma_incomplete.hl7 -> SMA Incomplete - Equivocal - Inadequate Specimen for SMA.hl7 From f5b12202f9b0cb4ae4bfed820b8d903fd63f0b01 Mon Sep 17 00:00:00 2001 From: James Herr Date: Fri, 27 Dec 2024 11:05:49 -0600 Subject: [PATCH 55/61] Fixed bad character Co-Authored-By: Bella L. Quintero <96704946+pluckyswan@users.noreply.github.com> Co-Authored-By: Jeremy Rosenfeld <10262289+JeremyIR@users.noreply.github.com> --- .../Input/001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004.hl7 | 2 +- .../Input/002_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002B.hl7 | 2 +- .../Input/003_CA_ORU_R01_CDPH_UCSD_189671588_pre_TI_TC001.hl7 | 2 +- .../Input/004_CA_ORU_R01_CDPH_UCSD_189700664_pre_TI_TC000.hl7 | 2 +- .../Input/005_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002C.hl7 | 2 +- .../Input/006_CA_ORU_R01_CDPH_UCSD_189716938_pre_TI_TC002A.hl7 | 2 +- ...07_CA_ORU_R01_CDPH_UCSD_189717091_80015955_pre_TI_TC007A.hl7 | 2 +- ...CA_ORU_R01_CDPH_UCSD_MRN_80009320_pre_TI_TC001_Corrected.hl7 | 2 +- .../010_CA_ORU_R01_CDPH_UCSD_MRN_80015980_pre_TI_TC006.hl7 | 2 +- 9 files changed, 9 insertions(+), 9 deletions(-) diff --git a/examples/Test/Automated/GoldenCopy/Input/001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004.hl7 b/examples/Test/Automated/GoldenCopy/Input/001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004.hl7 index b47644b66..74972cc49 100644 --- a/examples/Test/Automated/GoldenCopy/Input/001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004.hl7 +++ b/examples/Test/Automated/GoldenCopy/Input/001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004.hl7 @@ -1 +1 @@ -MSH|^~\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241015054631||ORU^R01^ORU_R01|001|N|2.5.1 PID|1||80015867^^^&NPI^MR||CDPHTWO^GIRL MOMTWO^^^^^B||202410071025|F||2076-8^Native Hawaiian or Other Pacific Islander||||||||||||2186-5^Not Hispanic or Latino||N|1 NK1|1|CDPHTWO^MOMTWO|MTH^Mother|2 SECOND ST^^SAN DIEGO^CA^92121^USA||||||||||||20000202 ORC|RE|7371237714^FormNumber||189688314^HospOrdNumber||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|7371237714^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBR|2|7371237714^FormNumber||57128-1^Newborn Screening Report summary panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12427-3^Subsequent screen - for clarification of initial results (not by law or protocol)^LN|||N|||F|||20241015054631 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241015054631 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241015054631 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA12543-7^GALT^LN|||N|||F|||20241015054631 OBX|5|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|2|LA12533-8^CAH^LN|||N|||F|||20241015054631 OBX|6|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA12566-8^SCID^LN|||N|||F|||20241015054631 OBX|7|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|2|LA14037-8^GAA^LN|||N|||F|||20241015054631 OBX|8|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\CAH: An immediate referral to a CCS endocrine center or pediatric endocrinologist, for evaluation and additional testing, is strongly recommended. \.br\\.br\Pompe: Another dried blood specimen MUST be collected for this child. Call your Newborn Screening Coordinator for assistance. \.br\\.br\SCID: Another dried blood specimen MUST be collected for this child. Call your Newborn Screening Coordinator for assistance. \.br\\.br\Galactosemia: Additional testing is required to rule out disorder.�Call your Newborn Screening Coordinator for assistance. \.br\\.br\ATTENTION: THIS CHILD HAS TESTED POSITIVE FOR MORE THAN ONE TEST. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241015054631 OBX|9|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241015054631 OBR|3|7371237714^FormNumber||57717-1^Newborn screen card data panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241015054631 OBX|2|NM|8339-4^Birthweight^LN|1|3175|grams||N|||F|||20241015054631 OBX|3|TM|57715-5^Time of birth^LN|1|1025|||N|||F|||20241015054631 OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241015054631 OBX|5|NM|73806-2^Newborn age in hours^LN|1|25|hour(s)||N|||F|||20241015054631 OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241015054631 OBX|7|CE|67704-7^Feeding types^LN|1|LA4489-6^Unknown^LN|||N|||F|||20241015054631 OBX|8|TX|^^^99717-5^Accession Number^L|1|282-49-252/21-2024-21|||N|||F|||20241015054631 OBX|9|TX|62324-9^Post-discharge provider name^LN|1|DENISE COYLE|||N|||F|||20241015054631 OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241015054631 OBR|4|7371237714^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBR|5|7371237714^FormNumber||53261-4^Amino acid newborn screen panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241015054631 OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|�mol/L|<1000|N|||F|||20241015054631 OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241015054631 OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241015054631 OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|�mol/L|<230|N|||F|||20241015054631 OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241015054631 OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|�mol/L|<175|N|||F|||20241015054631 OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241015054631 OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|�mol/L|<680|N|||F|||20241015054631 OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|�mol/L|<6.1|N|||F|||20241015054631 OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|�mol/L|6.3-100|N|||F|||20241015054631 OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|�mol/L|5-49|N|||F|||20241015054631 OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241015054631 OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|�mol/L|<800|N|||F|||20241015054631 OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241015054631 OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|�mol/L|<63|N|||F|||20241015054631 OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241015054631 OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|�mol/L|<1500|N|||F|||20241015054631 OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015054631 OBR|6|7371237714^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015054631 OBR|7|7371237714^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|33|�mol/L|6.4-125|N|||F|||20241015054631 OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241015054631 OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|�mol/L|10-80|N|||F|||20241015054631 OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241015054631 OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|�mol/L|<0.95|N|||F|||20241015054631 OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|�mol/L|<0.45|N|||F|||20241015054631 OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241015054631 OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|�mol/L|<0.65|N|||F|||20241015054631 OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|�mol/L|<0.65|N|||F|||20241015054631 OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|�mol/L|<0.45|N|||F|||20241015054631 OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|�mol/L|<2|N|||F|||20241015054631 OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|�mol/L||N|||F|||20241015054631 OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|�mol/L|<1.2|N|||F|||20241015054631 OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|�mol/L|<0.9|N|||F|||20241015054631 OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241015054631 OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|�mol/L||N|||F|||20241015054631 OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|�mol/L|<0.2|N|||F|||20241015054631 OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|�mol/L|<12|N|||F|||20241015054631 OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|�mol/L|<1.4|N|||F|||20241015054631 OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241015054631 OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241015054631 OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|�mol/L|<3.5|N|||F|||20241015054631 OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|�mol/L|<7|N|||F|||20241015054631 OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|�mol/L||N|||F|||20241015054631 OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241015054631 OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241015054631 OBR|8|7371237714^FormNumber||57085-3^Organic acid newborn screen panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|�mol/L|<7.9|N|||F|||20241015054631 OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241015054631 OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|�mol/L|<0.48|N|||F|||20241015054631 OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|�mol/L|<1.7|N|||F|||20241015054631 OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|�mol/L|<0.95|N|||F|||20241015054631 OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241015054631 OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|�mol/L|<0.5|N|||F|||20241015054631 OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|�mol/L|<1.15|N|||F|||20241015054631 OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|�mol/L|<0.38|N|||F|||20241015054631 OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241015054631 OBR|9|7371237714^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241015054631 OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015054631 OBR|10|7371237714^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|305|nmol/L|<85|H|||F|||20241015054631 OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241015054631 OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241015054631 OBR|11|7371237714^FormNumber||54090-6^Thyroid newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241015054631 OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBR|12|7371237714^FormNumber||54079-9^Galactosemia newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|48.00|enzyme units|>50|L|||F|||20241015054631 OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241015054631 OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241015054631 OBR|13|7371237714^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241015054631 OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.�These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241015054631 OBR|14|7371237714^FormNumber||57087-9^Biotinidase newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241015054631 OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBR|15|7371237714^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|2|copies/�L|>18|L|||F|||20241015054631 OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA11884-6^Indeterminate^LN|||A|||F|||20241015054631 OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Incomplete|||A|||F|||20241015054631 OBR|16|7371237714^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA16205-9^Specimen unsatisfactory for at least one condition^LN|||A|||F|||20241015054631 OBX|2|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Incomplete|||A|||F|||20241015054631 OBR|17|7371237714^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|�mol/L/h|>=18.2|N|||F|||20241015054631 OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBR|18|7371237714^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241015054631 OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241015054631 OBR|19|7371237714^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|�mol/L/h|>=2.06|N|||F|||20241015054631 OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBR|20|7371237714^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241015054631 OBR|21|7371237714^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|�mol/L|<=3|N|||F|||20241015054631 OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|�mol/L||N|||F|||20241015054631 OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20241015054631 OBR|22|7371237714^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241015054631 OBR|23|7371237714^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|�mol/L|<0.47|N|||F|||20241015054631 +MSH|^~\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241015054631||ORU^R01^ORU_R01|001|N|2.5.1 PID|1||80015867^^^&NPI^MR||CDPHTWO^GIRL MOMTWO^^^^^B||202410071025|F||2076-8^Native Hawaiian or Other Pacific Islander||||||||||||2186-5^Not Hispanic or Latino||N|1 NK1|1|CDPHTWO^MOMTWO|MTH^Mother|2 SECOND ST^^SAN DIEGO^CA^92121^USA||||||||||||20000202 ORC|RE|7371237714^FormNumber||189688314^HospOrdNumber||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|7371237714^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBR|2|7371237714^FormNumber||57128-1^Newborn Screening Report summary panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12427-3^Subsequent screen - for clarification of initial results (not by law or protocol)^LN|||N|||F|||20241015054631 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241015054631 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241015054631 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA12543-7^GALT^LN|||N|||F|||20241015054631 OBX|5|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|2|LA12533-8^CAH^LN|||N|||F|||20241015054631 OBX|6|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA12566-8^SCID^LN|||N|||F|||20241015054631 OBX|7|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|2|LA14037-8^GAA^LN|||N|||F|||20241015054631 OBX|8|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\CAH: An immediate referral to a CCS endocrine center or pediatric endocrinologist, for evaluation and additional testing, is strongly recommended. \.br\\.br\Pompe: Another dried blood specimen MUST be collected for this child. Call your Newborn Screening Coordinator for assistance. \.br\\.br\SCID: Another dried blood specimen MUST be collected for this child. Call your Newborn Screening Coordinator for assistance. \.br\\.br\Galactosemia: Additional testing is required to rule out disorder.µCall your Newborn Screening Coordinator for assistance. \.br\\.br\ATTENTION: THIS CHILD HAS TESTED POSITIVE FOR MORE THAN ONE TEST. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241015054631 OBX|9|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241015054631 OBR|3|7371237714^FormNumber||57717-1^Newborn screen card data panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241015054631 OBX|2|NM|8339-4^Birthweight^LN|1|3175|grams||N|||F|||20241015054631 OBX|3|TM|57715-5^Time of birth^LN|1|1025|||N|||F|||20241015054631 OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241015054631 OBX|5|NM|73806-2^Newborn age in hours^LN|1|25|hour(s)||N|||F|||20241015054631 OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241015054631 OBX|7|CE|67704-7^Feeding types^LN|1|LA4489-6^Unknown^LN|||N|||F|||20241015054631 OBX|8|TX|^^^99717-5^Accession Number^L|1|282-49-252/21-2024-21|||N|||F|||20241015054631 OBX|9|TX|62324-9^Post-discharge provider name^LN|1|DENISE COYLE|||N|||F|||20241015054631 OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241015054631 OBR|4|7371237714^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBR|5|7371237714^FormNumber||53261-4^Amino acid newborn screen panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241015054631 OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|µmol/L|<1000|N|||F|||20241015054631 OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241015054631 OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241015054631 OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|µmol/L|<230|N|||F|||20241015054631 OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241015054631 OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|µmol/L|<175|N|||F|||20241015054631 OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241015054631 OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|µmol/L|<680|N|||F|||20241015054631 OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|µmol/L|<6.1|N|||F|||20241015054631 OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|µmol/L|6.3-100|N|||F|||20241015054631 OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|µmol/L|5-49|N|||F|||20241015054631 OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241015054631 OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|µmol/L|<800|N|||F|||20241015054631 OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241015054631 OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|µmol/L|<63|N|||F|||20241015054631 OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241015054631 OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|µmol/L|<1500|N|||F|||20241015054631 OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015054631 OBR|6|7371237714^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015054631 OBR|7|7371237714^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|33|µmol/L|6.4-125|N|||F|||20241015054631 OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241015054631 OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|µmol/L|10-80|N|||F|||20241015054631 OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241015054631 OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|µmol/L|<0.95|N|||F|||20241015054631 OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|µmol/L|<0.45|N|||F|||20241015054631 OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241015054631 OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|µmol/L|<0.65|N|||F|||20241015054631 OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|µmol/L|<0.65|N|||F|||20241015054631 OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|µmol/L|<0.45|N|||F|||20241015054631 OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|µmol/L|<2|N|||F|||20241015054631 OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|µmol/L||N|||F|||20241015054631 OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|µmol/L|<1.2|N|||F|||20241015054631 OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|µmol/L|<0.9|N|||F|||20241015054631 OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241015054631 OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|µmol/L||N|||F|||20241015054631 OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|µmol/L|<0.2|N|||F|||20241015054631 OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|µmol/L|<12|N|||F|||20241015054631 OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|µmol/L|<1.4|N|||F|||20241015054631 OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241015054631 OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241015054631 OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|µmol/L|<3.5|N|||F|||20241015054631 OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|µmol/L|<7|N|||F|||20241015054631 OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|µmol/L||N|||F|||20241015054631 OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241015054631 OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241015054631 OBR|8|7371237714^FormNumber||57085-3^Organic acid newborn screen panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|µmol/L|<7.9|N|||F|||20241015054631 OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241015054631 OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|µmol/L|<0.48|N|||F|||20241015054631 OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|µmol/L|<1.7|N|||F|||20241015054631 OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|µmol/L|<0.95|N|||F|||20241015054631 OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241015054631 OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|µmol/L|<0.5|N|||F|||20241015054631 OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|µmol/L|<1.15|N|||F|||20241015054631 OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|µmol/L|<0.38|N|||F|||20241015054631 OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241015054631 OBR|9|7371237714^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241015054631 OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015054631 OBR|10|7371237714^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|305|nmol/L|<85|H|||F|||20241015054631 OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241015054631 OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241015054631 OBR|11|7371237714^FormNumber||54090-6^Thyroid newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241015054631 OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBR|12|7371237714^FormNumber||54079-9^Galactosemia newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|48.00|enzyme units|>50|L|||F|||20241015054631 OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241015054631 OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241015054631 OBR|13|7371237714^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241015054631 OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.µThese results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241015054631 OBR|14|7371237714^FormNumber||57087-9^Biotinidase newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241015054631 OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBR|15|7371237714^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|2|copies/µL|>18|L|||F|||20241015054631 OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA11884-6^Indeterminate^LN|||A|||F|||20241015054631 OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Incomplete|||A|||F|||20241015054631 OBR|16|7371237714^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA16205-9^Specimen unsatisfactory for at least one condition^LN|||A|||F|||20241015054631 OBX|2|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Incomplete|||A|||F|||20241015054631 OBR|17|7371237714^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|µmol/L/h|>=18.2|N|||F|||20241015054631 OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBR|18|7371237714^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241015054631 OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241015054631 OBR|19|7371237714^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|µmol/L/h|>=2.06|N|||F|||20241015054631 OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBR|20|7371237714^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241015054631 OBR|21|7371237714^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|µmol/L|<=3|N|||F|||20241015054631 OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|µmol/L||N|||F|||20241015054631 OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20241015054631 OBR|22|7371237714^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241015054631 OBR|23|7371237714^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410081133|||||||||^HUBBARD^EUSTRATIA||||||20241015054631|||F OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|µmol/L|<0.47|N|||F|||20241015054631 diff --git a/examples/Test/Automated/GoldenCopy/Input/002_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002B.hl7 b/examples/Test/Automated/GoldenCopy/Input/002_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002B.hl7 index 09e8c2ce4..3e4177ee9 100644 --- a/examples/Test/Automated/GoldenCopy/Input/002_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002B.hl7 +++ b/examples/Test/Automated/GoldenCopy/Input/002_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002B.hl7 @@ -1 +1 @@ -MSH|^~\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241022024155||ORU^R01^ORU_R01|002|N|2.5.1 PID|1||80015887^^^&NPI^MR||CDPHTHREE^BOY B MOMTHREE^^^^^B|||M||2131-1^Other Race||||||||||||UNK^Unknown||Y|2 NK1|1|CDPHTHREE^MOMTHREE|MTH^Mother|3 3RD ST^^SAN DIEGO^CA^92126^USA|^^^^^858^2490007|||||||||||20031007 ORC|RE|7381238055^FormNumber||189693889^HospOrdNumber||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|7381238055^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBR|2|7381238055^FormNumber||57128-1^Newborn Screening Report summary panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241022024155 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241022024155 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241022024155 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA16207-5^Hemoglobinopathies^LN|||N|||F|||20241022024155 OBX|5|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|2|LA12537-9^CF^LN|||N|||F|||20241022024155 OBX|6|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241022024155 OBX|7|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\Amino Acid Panel: There was insufficient data to determine whether or not this newborn was at least 12 hours old when this specimen was collected. Testing of amino acids at less than 12 hours of age is not reliable for detecting certain metabolic disorder. \.br\\.br\Hb: An immediate referral to a CCS Sickle Cell Disease/Hemoglobinopathies Center is strongly recommended. \.br\\.br\Cystic Fibrosis (CF): An immediate referral to a CCS approved Cystic Fibrosis Center for evaluation and additional testing is strongly recommended. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Screen for CF based on IRT and the California CFTR DNA mutation panel which consists of the following mutations: 1078delT, 1288insTA, 1677delTA, 1717-1G>A, 1812-1G>A, 1898+1G>A, 1898+5G>T, 2055del9>A, 2105-2117del13insAGAAA, 2143delT, 2183AA>G, 2184delA, 2307insA, 2789+5G>A, 2869insG, 3120+1G>A, 3120G>A, 3199del6, 3272-26A>G, 3659delC, 3791delC, 3849+10kbC>T, 3876delA, 3905insT, 394delTT, 405+3A>C, 406-1G>A, 444delA, 621+1G>T, 663delT, 711+1G>T, 935delA, A455E, A559T, CFTRdel2,3(21kb), delF311, delF508, delI507, E60X, G178R, G330X, G542X, G551D, G85E, H199Y, K710X, L206W, M1101K, N1303K, P205S, Q493X, Q890X, Q98R, R1066C, R1158X, R1162X, R117C, R334W, R347H, R347P, R352Q, R553X, R560T, R75X, S1196X, S1255X, S492F, S549N, S549R(T>G), V520F, W1089X, W1204X(3743G>A), W1204X(3744G>A), W1282X, Y1092X(C>A), Y1092X(C>G), Y122X. California CFTR Mutation Panel was run at Stanford Health Care, Molecular Pathology Laboratory, 3375 Hillview Avenue, Palo Alto, CA 94304. Directors: James Zehnder, MD; Christian Kunder, MD, PhD; Carlos J. Suarez, MD; (650) 723-6574. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241022024155 OBX|8|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241022024155 OBR|3|7381238055^FormNumber||57717-1^Newborn screen card data panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241022024155 OBX|2|NM|8339-4^Birthweight^LN|1|2948|grams||N|||F|||20241022024155 OBX|3|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12412-5^Twins^LN|||N|||F|||20241022024155 OBX|4|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241022024155 OBX|5|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241022024155 OBX|6|TX|^^^99717-5^Accession Number^L|1|282-12-459/21-2024-21|||N|||F|||20241022024155 OBX|7|TX|62324-9^Post-discharge provider name^LN|1|MICHELLE LEFF|||N|||F|||20241022024155 OBX|8|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241022024155 OBR|4|7381238055^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBR|5|7381238055^FormNumber||53261-4^Amino acid newborn screen panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241022024155 OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|�mol/L|<1000|N|||F|||20241022024155 OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241022024155 OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241022024155 OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|�mol/L|<230|N|||F|||20241022024155 OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241022024155 OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|�mol/L|<175|N|||F|||20241022024155 OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241022024155 OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|�mol/L|<680|N|||F|||20241022024155 OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|�mol/L|<6.1|N|||F|||20241022024155 OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|�mol/L|6.3-100|N|||F|||20241022024155 OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|�mol/L|5-49|N|||F|||20241022024155 OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241022024155 OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|�mol/L|<800|N|||F|||20241022024155 OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241022024155 OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|�mol/L|<63|N|||F|||20241022024155 OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241022024155 OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|�mol/L|<1500|N|||F|||20241022024155 OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Collected Early. No Interpretation.|||A|||F|||20241022024155 OBR|6|7381238055^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241022024155 OBR|7|7381238055^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|33|�mol/L|6.4-125|N|||F|||20241022024155 OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241022024155 OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|�mol/L|10-80|N|||F|||20241022024155 OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241022024155 OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|�mol/L|<0.95|N|||F|||20241022024155 OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|�mol/L|<0.45|N|||F|||20241022024155 OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241022024155 OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|�mol/L|<0.65|N|||F|||20241022024155 OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|�mol/L|<0.65|N|||F|||20241022024155 OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|�mol/L|<0.45|N|||F|||20241022024155 OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|�mol/L|<2|N|||F|||20241022024155 OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|�mol/L||N|||F|||20241022024155 OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|�mol/L|<1.2|N|||F|||20241022024155 OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|�mol/L|<0.9|N|||F|||20241022024155 OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241022024155 OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|�mol/L||N|||F|||20241022024155 OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|�mol/L|<0.2|N|||F|||20241022024155 OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|�mol/L|<12|N|||F|||20241022024155 OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|�mol/L|<1.4|N|||F|||20241022024155 OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241022024155 OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241022024155 OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|�mol/L|<3.5|N|||F|||20241022024155 OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|�mol/L|<7|N|||F|||20241022024155 OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|�mol/L||N|||F|||20241022024155 OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241022024155 OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241022024155 OBR|8|7381238055^FormNumber||57085-3^Organic acid newborn screen panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|�mol/L|<7.9|N|||F|||20241022024155 OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241022024155 OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|�mol/L|<0.48|N|||F|||20241022024155 OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|�mol/L|<1.7|N|||F|||20241022024155 OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|�mol/L|<0.95|N|||F|||20241022024155 OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241022024155 OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|�mol/L|<0.5|N|||F|||20241022024155 OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|�mol/L|<1.15|N|||F|||20241022024155 OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|�mol/L|<0.38|N|||F|||20241022024155 OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241022024155 OBR|9|7381238055^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|72.00|ng/mL|<69|H|||F|||20241022024155 OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA11884-6^Indeterminate^LN|||A|||F|||20241022024155 OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Consistent with Cystic Fibrosis (delF508 and delI507 mutations)|||A|||F|||20241022024155 OBR|10|7381238055^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<85|N|||F|||20241022024155 OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241022024155 OBR|11|7381238055^FormNumber||54090-6^Thyroid newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241022024155 OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241022024155 OBR|12|7381238055^FormNumber||54079-9^Galactosemia newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|55.00|enzyme units|>50|N|||F|||20241022024155 OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241022024155 OBR|13|7381238055^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|F||||||F|||20241022024155 OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Consistent with Beta thalassemia major (Cooley's anemia).||||||F|||20241022024155 OBR|14|7381238055^FormNumber||57087-9^Biotinidase newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241022024155 OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241022024155 OBR|15|7381238055^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/�L|>18|N|||F|||20241022024155 OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241022024155 OBR|16|7381238055^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|�mol/L/h|>=18.2|N|||F|||20241022024155 OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241022024155 OBR|17|7381238055^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|�mol/L/h|>=18.2|N|||F|||20241022024155 OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241022024155 OBR|18|7381238055^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241022024155 OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241022024155 OBR|19|7381238055^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|�mol/L/h|>=2.06|N|||F|||20241022024155 OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241022024155 OBR|20|7381238055^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241022024155 OBR|21|7381238055^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|�mol/L|<=3|N|||F|||20241022024155 OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|�mol/L||N|||F|||20241022024155 OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20241022024155 OBR|22|7381238055^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241022024155 OBR|23|7381238055^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|�mol/L|<0.47|N|||F|||20241022024155 +MSH|^~\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241022024155||ORU^R01^ORU_R01|002|N|2.5.1 PID|1||80015887^^^&NPI^MR||CDPHTHREE^BOY B MOMTHREE^^^^^B|||M||2131-1^Other Race||||||||||||UNK^Unknown||Y|2 NK1|1|CDPHTHREE^MOMTHREE|MTH^Mother|3 3RD ST^^SAN DIEGO^CA^92126^USA|^^^^^858^2490007|||||||||||20031007 ORC|RE|7381238055^FormNumber||189693889^HospOrdNumber||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|7381238055^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBR|2|7381238055^FormNumber||57128-1^Newborn Screening Report summary panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241022024155 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241022024155 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241022024155 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA16207-5^Hemoglobinopathies^LN|||N|||F|||20241022024155 OBX|5|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|2|LA12537-9^CF^LN|||N|||F|||20241022024155 OBX|6|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241022024155 OBX|7|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\Amino Acid Panel: There was insufficient data to determine whether or not this newborn was at least 12 hours old when this specimen was collected. Testing of amino acids at less than 12 hours of age is not reliable for detecting certain metabolic disorder. \.br\\.br\Hb: An immediate referral to a CCS Sickle Cell Disease/Hemoglobinopathies Center is strongly recommended. \.br\\.br\Cystic Fibrosis (CF): An immediate referral to a CCS approved Cystic Fibrosis Center for evaluation and additional testing is strongly recommended. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Screen for CF based on IRT and the California CFTR DNA mutation panel which consists of the following mutations: 1078delT, 1288insTA, 1677delTA, 1717-1G>A, 1812-1G>A, 1898+1G>A, 1898+5G>T, 2055del9>A, 2105-2117del13insAGAAA, 2143delT, 2183AA>G, 2184delA, 2307insA, 2789+5G>A, 2869insG, 3120+1G>A, 3120G>A, 3199del6, 3272-26A>G, 3659delC, 3791delC, 3849+10kbC>T, 3876delA, 3905insT, 394delTT, 405+3A>C, 406-1G>A, 444delA, 621+1G>T, 663delT, 711+1G>T, 935delA, A455E, A559T, CFTRdel2,3(21kb), delF311, delF508, delI507, E60X, G178R, G330X, G542X, G551D, G85E, H199Y, K710X, L206W, M1101K, N1303K, P205S, Q493X, Q890X, Q98R, R1066C, R1158X, R1162X, R117C, R334W, R347H, R347P, R352Q, R553X, R560T, R75X, S1196X, S1255X, S492F, S549N, S549R(T>G), V520F, W1089X, W1204X(3743G>A), W1204X(3744G>A), W1282X, Y1092X(C>A), Y1092X(C>G), Y122X. California CFTR Mutation Panel was run at Stanford Health Care, Molecular Pathology Laboratory, 3375 Hillview Avenue, Palo Alto, CA 94304. Directors: James Zehnder, MD; Christian Kunder, MD, PhD; Carlos J. Suarez, MD; (650) 723-6574. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241022024155 OBX|8|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241022024155 OBR|3|7381238055^FormNumber||57717-1^Newborn screen card data panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241022024155 OBX|2|NM|8339-4^Birthweight^LN|1|2948|grams||N|||F|||20241022024155 OBX|3|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12412-5^Twins^LN|||N|||F|||20241022024155 OBX|4|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241022024155 OBX|5|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241022024155 OBX|6|TX|^^^99717-5^Accession Number^L|1|282-12-459/21-2024-21|||N|||F|||20241022024155 OBX|7|TX|62324-9^Post-discharge provider name^LN|1|MICHELLE LEFF|||N|||F|||20241022024155 OBX|8|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241022024155 OBR|4|7381238055^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBR|5|7381238055^FormNumber||53261-4^Amino acid newborn screen panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241022024155 OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|µmol/L|<1000|N|||F|||20241022024155 OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241022024155 OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241022024155 OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|µmol/L|<230|N|||F|||20241022024155 OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241022024155 OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|µmol/L|<175|N|||F|||20241022024155 OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241022024155 OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|µmol/L|<680|N|||F|||20241022024155 OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|µmol/L|<6.1|N|||F|||20241022024155 OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|µmol/L|6.3-100|N|||F|||20241022024155 OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|µmol/L|5-49|N|||F|||20241022024155 OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241022024155 OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|µmol/L|<800|N|||F|||20241022024155 OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241022024155 OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|µmol/L|<63|N|||F|||20241022024155 OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241022024155 OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|µmol/L|<1500|N|||F|||20241022024155 OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Collected Early. No Interpretation.|||A|||F|||20241022024155 OBR|6|7381238055^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241022024155 OBR|7|7381238055^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|33|µmol/L|6.4-125|N|||F|||20241022024155 OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241022024155 OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|µmol/L|10-80|N|||F|||20241022024155 OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241022024155 OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|µmol/L|<0.95|N|||F|||20241022024155 OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|µmol/L|<0.45|N|||F|||20241022024155 OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241022024155 OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|µmol/L|<0.65|N|||F|||20241022024155 OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|µmol/L|<0.65|N|||F|||20241022024155 OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|µmol/L|<0.45|N|||F|||20241022024155 OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|µmol/L|<2|N|||F|||20241022024155 OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|µmol/L||N|||F|||20241022024155 OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|µmol/L|<1.2|N|||F|||20241022024155 OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|µmol/L|<0.9|N|||F|||20241022024155 OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241022024155 OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|µmol/L||N|||F|||20241022024155 OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|µmol/L|<0.2|N|||F|||20241022024155 OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|µmol/L|<12|N|||F|||20241022024155 OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|µmol/L|<1.4|N|||F|||20241022024155 OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241022024155 OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241022024155 OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|µmol/L|<3.5|N|||F|||20241022024155 OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|µmol/L|<7|N|||F|||20241022024155 OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|µmol/L||N|||F|||20241022024155 OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241022024155 OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241022024155 OBR|8|7381238055^FormNumber||57085-3^Organic acid newborn screen panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|µmol/L|<7.9|N|||F|||20241022024155 OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241022024155 OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|µmol/L|<0.48|N|||F|||20241022024155 OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|µmol/L|<1.7|N|||F|||20241022024155 OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|µmol/L|<0.95|N|||F|||20241022024155 OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241022024155 OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|µmol/L|<0.5|N|||F|||20241022024155 OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|µmol/L|<1.15|N|||F|||20241022024155 OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|µmol/L|<0.38|N|||F|||20241022024155 OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241022024155 OBR|9|7381238055^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|72.00|ng/mL|<69|H|||F|||20241022024155 OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA11884-6^Indeterminate^LN|||A|||F|||20241022024155 OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Consistent with Cystic Fibrosis (delF508 and delI507 mutations)|||A|||F|||20241022024155 OBR|10|7381238055^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<85|N|||F|||20241022024155 OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241022024155 OBR|11|7381238055^FormNumber||54090-6^Thyroid newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241022024155 OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241022024155 OBR|12|7381238055^FormNumber||54079-9^Galactosemia newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|55.00|enzyme units|>50|N|||F|||20241022024155 OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241022024155 OBR|13|7381238055^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|F||||||F|||20241022024155 OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Consistent with Beta thalassemia major (Cooley's anemia).||||||F|||20241022024155 OBR|14|7381238055^FormNumber||57087-9^Biotinidase newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241022024155 OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241022024155 OBR|15|7381238055^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/µL|>18|N|||F|||20241022024155 OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241022024155 OBR|16|7381238055^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|µmol/L/h|>=18.2|N|||F|||20241022024155 OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241022024155 OBR|17|7381238055^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|µmol/L/h|>=18.2|N|||F|||20241022024155 OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241022024155 OBR|18|7381238055^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241022024155 OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241022024155 OBR|19|7381238055^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|µmol/L/h|>=2.06|N|||F|||20241022024155 OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241022024155 OBR|20|7381238055^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241022024155 OBR|21|7381238055^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|µmol/L|<=3|N|||F|||20241022024155 OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|µmol/L||N|||F|||20241022024155 OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20241022024155 OBR|22|7381238055^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241022024155 OBR|23|7381238055^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241022024155|||F OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|µmol/L|<0.47|N|||F|||20241022024155 diff --git a/examples/Test/Automated/GoldenCopy/Input/003_CA_ORU_R01_CDPH_UCSD_189671588_pre_TI_TC001.hl7 b/examples/Test/Automated/GoldenCopy/Input/003_CA_ORU_R01_CDPH_UCSD_189671588_pre_TI_TC001.hl7 index fcff71fd7..664a3811a 100644 --- a/examples/Test/Automated/GoldenCopy/Input/003_CA_ORU_R01_CDPH_UCSD_189671588_pre_TI_TC001.hl7 +++ b/examples/Test/Automated/GoldenCopy/Input/003_CA_ORU_R01_CDPH_UCSD_189671588_pre_TI_TC001.hl7 @@ -1 +1 @@ -MSH|^~\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20240930011140||ORU^R01^ORU_R01|003|N|2.5.1 PID|1||80009320^^^&NPI^MR||NEWBORNSCREEN^BOY RED^^^^^B||202408150826|M||1002-5^American Indian or Alaska Native||||||||||||2186-5^Not Hispanic or Latino||N|1 NK1|1|NEWBORNSCREEN^RED|MTH^Mother|9560 TOWNE CENTRE DR^^SAN DIEGO^CA^92121-1972^USA|^^^^^619^1234567|||||||||||19850426 ORC|RE|7341237093^FormNumber||189671588^HospOrdNumber||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|7341237093^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBR|2|7341237093^FormNumber||57128-1^Newborn Screening Report summary panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20240930011140 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20240930011140 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA12428-1^All screening is in range for the conditions tested^LN|||N|||F|||20240930011140 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20240930011140 OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20240930011140 OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\Acyl Carnitine Panel: Reference Ranges for acylcarnitines are based on specimens collected on newborns who are less than 10 days old. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20240930011140 OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20240930011140 OBR|3|7341237093^FormNumber||57717-1^Newborn screen card data panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20240930011140 OBX|2|NM|8339-4^Birthweight^LN|1|3084|grams||N|||F|||20240930011140 OBX|3|TM|57715-5^Time of birth^LN|1|0826|||N|||F|||20240930011140 OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20240930011140 OBX|5|NM|73806-2^Newborn age in hours^LN|1|46|day(s)||N|||F|||20240930011140 OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20240930011140 OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20240930011140 OBX|8|TX|^^^99717-5^Accession Number^L|1|271-39-356/21-2024-21|||N|||F|||20240930011140 OBX|9|TX|62324-9^Post-discharge provider name^LN|1|MARVIN ZAGULI|||N|||F|||20240930011140 OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20240930011140 OBR|4|7341237093^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBR|5|7341237093^FormNumber||53261-4^Amino acid newborn screen panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20240930011140 OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|�mol/L|<1000|N|||F|||20240930011140 OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20240930011140 OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20240930011140 OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|�mol/L|<230|N|||F|||20240930011140 OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20240930011140 OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|�mol/L|<175|N|||F|||20240930011140 OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20240930011140 OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|�mol/L|<680|N|||F|||20240930011140 OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|�mol/L|<6.1|N|||F|||20240930011140 OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|�mol/L|6.3-100|N|||F|||20240930011140 OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|�mol/L|5-49|N|||F|||20240930011140 OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20240930011140 OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|�mol/L|<800|N|||F|||20240930011140 OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20240930011140 OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|�mol/L|<63|N|||F|||20240930011140 OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20240930011140 OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|�mol/L|<1500|N|||F|||20240930011140 OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|6|7341237093^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|7|7341237093^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|33|�mol/L|6.4-125|N|||F|||20240930011140 OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20240930011140 OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|�mol/L|10-80|N|||F|||20240930011140 OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20240930011140 OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|�mol/L|<0.95|N|||F|||20240930011140 OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|�mol/L|<0.45|N|||F|||20240930011140 OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20240930011140 OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|�mol/L|<0.65|N|||F|||20240930011140 OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|�mol/L|<0.65|N|||F|||20240930011140 OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|�mol/L|<0.45|N|||F|||20240930011140 OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|�mol/L|<2|N|||F|||20240930011140 OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|�mol/L||N|||F|||20240930011140 OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|�mol/L|<1.2|N|||F|||20240930011140 OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|�mol/L|<0.9|N|||F|||20240930011140 OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20240930011140 OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|�mol/L||N|||F|||20240930011140 OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|�mol/L|<0.2|N|||F|||20240930011140 OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|�mol/L|<12|N|||F|||20240930011140 OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|�mol/L|<1.4|N|||F|||20240930011140 OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20240930011140 OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20240930011140 OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|�mol/L|<3.5|N|||F|||20240930011140 OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|�mol/L|<7|N|||F|||20240930011140 OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|�mol/L||N|||F|||20240930011140 OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20240930011140 OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20240930011140 OBR|8|7341237093^FormNumber||57085-3^Organic acid newborn screen panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|�mol/L|<7.9|N|||F|||20240930011140 OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20240930011140 OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|�mol/L|<0.48|N|||F|||20240930011140 OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|�mol/L|<1.7|N|||F|||20240930011140 OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|�mol/L|<0.95|N|||F|||20240930011140 OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20240930011140 OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|�mol/L|<0.5|N|||F|||20240930011140 OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|�mol/L|<1.15|N|||F|||20240930011140 OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|�mol/L|<0.38|N|||F|||20240930011140 OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20240930011140 OBR|9|7341237093^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20240930011140 OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|10|7341237093^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<85|N|||F|||20240930011140 OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|11|7341237093^FormNumber||54090-6^Thyroid newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20240930011140 OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|12|7341237093^FormNumber||54079-9^Galactosemia newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|55.00|enzyme units|>50|N|||F|||20240930011140 OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|13|7341237093^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20240930011140 OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.�These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20240930011140 OBR|14|7341237093^FormNumber||57087-9^Biotinidase newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20240930011140 OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|15|7341237093^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/�L|>18|N|||F|||20240930011140 OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|16|7341237093^FormNumber||63414-7^Pompe Disease newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|�mol/L/h|>=18.2|N|||F|||20240930011140 OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|17|7341237093^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|�mol/L/h|>=18.2|N|||F|||20240930011140 OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|18|7341237093^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20240930011140 OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20240930011140 OBR|19|7341237093^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|�mol/L/h|>=2.06|N|||F|||20240930011140 OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|20|7341237093^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|21|7341237093^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|�mol/L|<=3|N|||F|||20240930011140 OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|�mol/L||N|||F|||20240930011140 OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20240930011140 OBR|22|7341237093^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20240930011140 OBR|23|7341237093^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|�mol/L|<0.47|N|||F|||20240930011140 +MSH|^~\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20240930011140||ORU^R01^ORU_R01|003|N|2.5.1 PID|1||80009320^^^&NPI^MR||NEWBORNSCREEN^BOY RED^^^^^B||202408150826|M||1002-5^American Indian or Alaska Native||||||||||||2186-5^Not Hispanic or Latino||N|1 NK1|1|NEWBORNSCREEN^RED|MTH^Mother|9560 TOWNE CENTRE DR^^SAN DIEGO^CA^92121-1972^USA|^^^^^619^1234567|||||||||||19850426 ORC|RE|7341237093^FormNumber||189671588^HospOrdNumber||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|7341237093^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBR|2|7341237093^FormNumber||57128-1^Newborn Screening Report summary panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20240930011140 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20240930011140 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA12428-1^All screening is in range for the conditions tested^LN|||N|||F|||20240930011140 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20240930011140 OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20240930011140 OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\Acyl Carnitine Panel: Reference Ranges for acylcarnitines are based on specimens collected on newborns who are less than 10 days old. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20240930011140 OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20240930011140 OBR|3|7341237093^FormNumber||57717-1^Newborn screen card data panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20240930011140 OBX|2|NM|8339-4^Birthweight^LN|1|3084|grams||N|||F|||20240930011140 OBX|3|TM|57715-5^Time of birth^LN|1|0826|||N|||F|||20240930011140 OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20240930011140 OBX|5|NM|73806-2^Newborn age in hours^LN|1|46|day(s)||N|||F|||20240930011140 OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20240930011140 OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20240930011140 OBX|8|TX|^^^99717-5^Accession Number^L|1|271-39-356/21-2024-21|||N|||F|||20240930011140 OBX|9|TX|62324-9^Post-discharge provider name^LN|1|MARVIN ZAGULI|||N|||F|||20240930011140 OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20240930011140 OBR|4|7341237093^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBR|5|7341237093^FormNumber||53261-4^Amino acid newborn screen panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20240930011140 OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|µmol/L|<1000|N|||F|||20240930011140 OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20240930011140 OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20240930011140 OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|µmol/L|<230|N|||F|||20240930011140 OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20240930011140 OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|µmol/L|<175|N|||F|||20240930011140 OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20240930011140 OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|µmol/L|<680|N|||F|||20240930011140 OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|µmol/L|<6.1|N|||F|||20240930011140 OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|µmol/L|6.3-100|N|||F|||20240930011140 OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|µmol/L|5-49|N|||F|||20240930011140 OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20240930011140 OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|µmol/L|<800|N|||F|||20240930011140 OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20240930011140 OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|µmol/L|<63|N|||F|||20240930011140 OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20240930011140 OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|µmol/L|<1500|N|||F|||20240930011140 OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|6|7341237093^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|7|7341237093^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|33|µmol/L|6.4-125|N|||F|||20240930011140 OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20240930011140 OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|µmol/L|10-80|N|||F|||20240930011140 OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20240930011140 OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|µmol/L|<0.95|N|||F|||20240930011140 OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|µmol/L|<0.45|N|||F|||20240930011140 OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20240930011140 OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|µmol/L|<0.65|N|||F|||20240930011140 OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|µmol/L|<0.65|N|||F|||20240930011140 OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|µmol/L|<0.45|N|||F|||20240930011140 OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|µmol/L|<2|N|||F|||20240930011140 OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|µmol/L||N|||F|||20240930011140 OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|µmol/L|<1.2|N|||F|||20240930011140 OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|µmol/L|<0.9|N|||F|||20240930011140 OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20240930011140 OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|µmol/L||N|||F|||20240930011140 OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|µmol/L|<0.2|N|||F|||20240930011140 OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|µmol/L|<12|N|||F|||20240930011140 OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|µmol/L|<1.4|N|||F|||20240930011140 OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20240930011140 OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20240930011140 OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|µmol/L|<3.5|N|||F|||20240930011140 OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|µmol/L|<7|N|||F|||20240930011140 OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|µmol/L||N|||F|||20240930011140 OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20240930011140 OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20240930011140 OBR|8|7341237093^FormNumber||57085-3^Organic acid newborn screen panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|µmol/L|<7.9|N|||F|||20240930011140 OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20240930011140 OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|µmol/L|<0.48|N|||F|||20240930011140 OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|µmol/L|<1.7|N|||F|||20240930011140 OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|µmol/L|<0.95|N|||F|||20240930011140 OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20240930011140 OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|µmol/L|<0.5|N|||F|||20240930011140 OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|µmol/L|<1.15|N|||F|||20240930011140 OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|µmol/L|<0.38|N|||F|||20240930011140 OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20240930011140 OBR|9|7341237093^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20240930011140 OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|10|7341237093^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<85|N|||F|||20240930011140 OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|11|7341237093^FormNumber||54090-6^Thyroid newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20240930011140 OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|12|7341237093^FormNumber||54079-9^Galactosemia newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|55.00|enzyme units|>50|N|||F|||20240930011140 OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|13|7341237093^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20240930011140 OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.µThese results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20240930011140 OBR|14|7341237093^FormNumber||57087-9^Biotinidase newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20240930011140 OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|15|7341237093^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/µL|>18|N|||F|||20240930011140 OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|16|7341237093^FormNumber||63414-7^Pompe Disease newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|µmol/L/h|>=18.2|N|||F|||20240930011140 OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|17|7341237093^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|µmol/L/h|>=18.2|N|||F|||20240930011140 OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|18|7341237093^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20240930011140 OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20240930011140 OBR|19|7341237093^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|µmol/L/h|>=2.06|N|||F|||20240930011140 OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|20|7341237093^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20240930011140 OBR|21|7341237093^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|µmol/L|<=3|N|||F|||20240930011140 OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|µmol/L||N|||F|||20240930011140 OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20240930011140 OBR|22|7341237093^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20240930011140 OBR|23|7341237093^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20240930011140|||F OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|µmol/L|<0.47|N|||F|||20240930011140 diff --git a/examples/Test/Automated/GoldenCopy/Input/004_CA_ORU_R01_CDPH_UCSD_189700664_pre_TI_TC000.hl7 b/examples/Test/Automated/GoldenCopy/Input/004_CA_ORU_R01_CDPH_UCSD_189700664_pre_TI_TC000.hl7 index 2826e7995..1ab4d1dd6 100644 --- a/examples/Test/Automated/GoldenCopy/Input/004_CA_ORU_R01_CDPH_UCSD_189700664_pre_TI_TC000.hl7 +++ b/examples/Test/Automated/GoldenCopy/Input/004_CA_ORU_R01_CDPH_UCSD_189700664_pre_TI_TC000.hl7 @@ -1 +1 @@ -MSH|^~\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241118050532||ORU^R01^ORU_R01|004|N|2.5.1 PID|1||80015913^^^&NPI^MR||CDPHRESULT^GIRL C MARY^^^^^B||202410241550|F||2076-8^Native Hawaiian or Other Pacific Islander||||||||||||2186-5^Not Hispanic or Latino||Y|3 NK1|1|CDPHRESULT^MARY|MTH^Mother|123 ST^^SAN DIEGO^CA^92123^USA|^^^^^858^2490014|||||||||||19981024 ORC|RE|7312693833^FormNumber||189700664^HospOrdNumber||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|7312693833^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBR|2|7312693833^FormNumber||57128-1^Newborn Screening Report summary panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241118050532 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241118050532 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA12428-1^All screening is in range for the conditions tested^LN|||N|||F|||20241118050532 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241118050532 OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241118050532 OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241118050532 OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241118050532 OBR|3|7312693833^FormNumber||57717-1^Newborn screen card data panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241118050532 OBX|2|NM|8339-4^Birthweight^LN|1|2722|grams||N|||F|||20241118050532 OBX|3|TM|57715-5^Time of birth^LN|1|1550|||N|||F|||20241118050532 OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12413-3^Triplets^LN|||N|||F|||20241118050532 OBX|5|NM|73806-2^Newborn age in hours^LN|1|23|hour(s)||N|||F|||20241118050532 OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241118050532 OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241118050532 OBX|8|TX|^^^99717-5^Accession Number^L|1|306-98-178/21-2024-21|||N|||F|||20241118050532 OBX|9|TX|62324-9^Post-discharge provider name^LN|1|MARVIN ZAGULI|||N|||F|||20241118050532 OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241118050532 OBR|4|7312693833^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBR|5|7312693833^FormNumber||53261-4^Amino acid newborn screen panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241118050532 OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|�mol/L|<1000|N|||F|||20241118050532 OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241118050532 OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241118050532 OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|�mol/L|<230|N|||F|||20241118050532 OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241118050532 OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|�mol/L|<175|N|||F|||20241118050532 OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241118050532 OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|�mol/L|<680|N|||F|||20241118050532 OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|�mol/L|<6.1|N|||F|||20241118050532 OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|�mol/L|6.3-100|N|||F|||20241118050532 OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|�mol/L|5-49|N|||F|||20241118050532 OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241118050532 OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|�mol/L|<800|N|||F|||20241118050532 OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241118050532 OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|�mol/L|<63|N|||F|||20241118050532 OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241118050532 OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|�mol/L|<1500|N|||F|||20241118050532 OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|6|7312693833^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|7|7312693833^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|33|�mol/L|6.4-125|N|||F|||20241118050532 OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241118050532 OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|�mol/L|10-80|N|||F|||20241118050532 OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241118050532 OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|�mol/L|<0.95|N|||F|||20241118050532 OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|�mol/L|<0.45|N|||F|||20241118050532 OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241118050532 OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|�mol/L|<0.65|N|||F|||20241118050532 OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|�mol/L|<0.65|N|||F|||20241118050532 OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|�mol/L|<0.45|N|||F|||20241118050532 OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|�mol/L|<2|N|||F|||20241118050532 OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|�mol/L||N|||F|||20241118050532 OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|�mol/L|<1.2|N|||F|||20241118050532 OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|�mol/L|<0.9|N|||F|||20241118050532 OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241118050532 OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|�mol/L||N|||F|||20241118050532 OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|�mol/L|<0.2|N|||F|||20241118050532 OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|�mol/L|<12|N|||F|||20241118050532 OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|�mol/L|<1.4|N|||F|||20241118050532 OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241118050532 OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241118050532 OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|�mol/L|<3.5|N|||F|||20241118050532 OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|�mol/L|<7|N|||F|||20241118050532 OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|�mol/L||N|||F|||20241118050532 OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241118050532 OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241118050532 OBR|8|7312693833^FormNumber||57085-3^Organic acid newborn screen panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|�mol/L|<7.9|N|||F|||20241118050532 OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241118050532 OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|�mol/L|<0.48|N|||F|||20241118050532 OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|�mol/L|<1.7|N|||F|||20241118050532 OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|�mol/L|<0.95|N|||F|||20241118050532 OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241118050532 OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|�mol/L|<0.5|N|||F|||20241118050532 OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|�mol/L|<1.15|N|||F|||20241118050532 OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|�mol/L|<0.38|N|||F|||20241118050532 OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241118050532 OBR|9|7312693833^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241118050532 OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|10|7312693833^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<85|N|||F|||20241118050532 OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|11|7312693833^FormNumber||54090-6^Thyroid newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241118050532 OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|12|7312693833^FormNumber||54079-9^Galactosemia newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|55.00|enzyme units|>50|N|||F|||20241118050532 OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|13|7312693833^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241118050532 OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.�These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241118050532 OBR|14|7312693833^FormNumber||57087-9^Biotinidase newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241118050532 OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|15|7312693833^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/�L|>18|N|||F|||20241118050532 OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|16|7312693833^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|�mol/L/h|>=18.2|N|||F|||20241118050532 OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|17|7312693833^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|�mol/L/h|>=18.2|N|||F|||20241118050532 OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|18|7312693833^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241118050532 OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241118050532 OBR|19|7312693833^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|�mol/L/h|>=2.06|N|||F|||20241118050532 OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|20|7312693833^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|21|7312693833^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|�mol/L|<=3|N|||F|||20241118050532 OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|�mol/L||N|||F|||20241118050532 OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|2.93||<=10|N|||F|||20241118050532 OBR|22|7312693833^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241118050532 OBR|23|7312693833^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|�mol/L|<0.47|N|||F|||20241118050532 +MSH|^~\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241118050532||ORU^R01^ORU_R01|004|N|2.5.1 PID|1||80015913^^^&NPI^MR||CDPHRESULT^GIRL C MARY^^^^^B||202410241550|F||2076-8^Native Hawaiian or Other Pacific Islander||||||||||||2186-5^Not Hispanic or Latino||Y|3 NK1|1|CDPHRESULT^MARY|MTH^Mother|123 ST^^SAN DIEGO^CA^92123^USA|^^^^^858^2490014|||||||||||19981024 ORC|RE|7312693833^FormNumber||189700664^HospOrdNumber||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|7312693833^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBR|2|7312693833^FormNumber||57128-1^Newborn Screening Report summary panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241118050532 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241118050532 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA12428-1^All screening is in range for the conditions tested^LN|||N|||F|||20241118050532 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241118050532 OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241118050532 OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241118050532 OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241118050532 OBR|3|7312693833^FormNumber||57717-1^Newborn screen card data panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241118050532 OBX|2|NM|8339-4^Birthweight^LN|1|2722|grams||N|||F|||20241118050532 OBX|3|TM|57715-5^Time of birth^LN|1|1550|||N|||F|||20241118050532 OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12413-3^Triplets^LN|||N|||F|||20241118050532 OBX|5|NM|73806-2^Newborn age in hours^LN|1|23|hour(s)||N|||F|||20241118050532 OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241118050532 OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241118050532 OBX|8|TX|^^^99717-5^Accession Number^L|1|306-98-178/21-2024-21|||N|||F|||20241118050532 OBX|9|TX|62324-9^Post-discharge provider name^LN|1|MARVIN ZAGULI|||N|||F|||20241118050532 OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241118050532 OBR|4|7312693833^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBR|5|7312693833^FormNumber||53261-4^Amino acid newborn screen panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241118050532 OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|µmol/L|<1000|N|||F|||20241118050532 OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241118050532 OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241118050532 OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|µmol/L|<230|N|||F|||20241118050532 OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241118050532 OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|µmol/L|<175|N|||F|||20241118050532 OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241118050532 OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|µmol/L|<680|N|||F|||20241118050532 OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|µmol/L|<6.1|N|||F|||20241118050532 OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|µmol/L|6.3-100|N|||F|||20241118050532 OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|µmol/L|5-49|N|||F|||20241118050532 OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241118050532 OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|µmol/L|<800|N|||F|||20241118050532 OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241118050532 OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|µmol/L|<63|N|||F|||20241118050532 OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241118050532 OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|µmol/L|<1500|N|||F|||20241118050532 OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|6|7312693833^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|7|7312693833^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|33|µmol/L|6.4-125|N|||F|||20241118050532 OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241118050532 OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|µmol/L|10-80|N|||F|||20241118050532 OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241118050532 OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|µmol/L|<0.95|N|||F|||20241118050532 OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|µmol/L|<0.45|N|||F|||20241118050532 OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241118050532 OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|µmol/L|<0.65|N|||F|||20241118050532 OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|µmol/L|<0.65|N|||F|||20241118050532 OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|µmol/L|<0.45|N|||F|||20241118050532 OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|µmol/L|<2|N|||F|||20241118050532 OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|µmol/L||N|||F|||20241118050532 OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|µmol/L|<1.2|N|||F|||20241118050532 OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|µmol/L|<0.9|N|||F|||20241118050532 OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241118050532 OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|µmol/L||N|||F|||20241118050532 OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|µmol/L|<0.2|N|||F|||20241118050532 OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|µmol/L|<12|N|||F|||20241118050532 OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|µmol/L|<1.4|N|||F|||20241118050532 OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241118050532 OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241118050532 OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|µmol/L|<3.5|N|||F|||20241118050532 OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|µmol/L|<7|N|||F|||20241118050532 OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|µmol/L||N|||F|||20241118050532 OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241118050532 OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241118050532 OBR|8|7312693833^FormNumber||57085-3^Organic acid newborn screen panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|µmol/L|<7.9|N|||F|||20241118050532 OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241118050532 OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|µmol/L|<0.48|N|||F|||20241118050532 OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|µmol/L|<1.7|N|||F|||20241118050532 OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|µmol/L|<0.95|N|||F|||20241118050532 OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241118050532 OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|µmol/L|<0.5|N|||F|||20241118050532 OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|µmol/L|<1.15|N|||F|||20241118050532 OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|µmol/L|<0.38|N|||F|||20241118050532 OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241118050532 OBR|9|7312693833^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241118050532 OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|10|7312693833^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<85|N|||F|||20241118050532 OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|11|7312693833^FormNumber||54090-6^Thyroid newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241118050532 OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|12|7312693833^FormNumber||54079-9^Galactosemia newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|55.00|enzyme units|>50|N|||F|||20241118050532 OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|13|7312693833^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241118050532 OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.µThese results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241118050532 OBR|14|7312693833^FormNumber||57087-9^Biotinidase newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241118050532 OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|15|7312693833^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/µL|>18|N|||F|||20241118050532 OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|16|7312693833^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|µmol/L/h|>=18.2|N|||F|||20241118050532 OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|17|7312693833^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|µmol/L/h|>=18.2|N|||F|||20241118050532 OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|18|7312693833^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241118050532 OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241118050532 OBR|19|7312693833^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|µmol/L/h|>=2.06|N|||F|||20241118050532 OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|20|7312693833^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241118050532 OBR|21|7312693833^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|µmol/L|<=3|N|||F|||20241118050532 OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|µmol/L||N|||F|||20241118050532 OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|2.93||<=10|N|||F|||20241118050532 OBR|22|7312693833^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241118050532 OBR|23|7312693833^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410251536|||||||||^HUBBARD^EUSTRATIA||||||20241118050532|||F OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|µmol/L|<0.47|N|||F|||20241118050532 diff --git a/examples/Test/Automated/GoldenCopy/Input/005_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002C.hl7 b/examples/Test/Automated/GoldenCopy/Input/005_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002C.hl7 index e61dbf1a6..a3778b75c 100644 --- a/examples/Test/Automated/GoldenCopy/Input/005_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002C.hl7 +++ b/examples/Test/Automated/GoldenCopy/Input/005_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002C.hl7 @@ -1 +1 @@ -MSH|^~\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241118030201||ORU^R01^ORU_R01|005|N|2.5.1 PID|1||80015887^^^&NPI^MR||CDPHTHREE^BOY B MOMTHREE^^^^^B||202410161318|M||2131-1^Other Race||||||||||||UNK^Unknown||Y|2 NK1|1|CDPHTHREE^MOMTHREE|MTH^Mother|3 3RD ST^^SAN DIEGO^CA^92126^USA|^^^^^858^2490007|||||||||||20031007 ORC|RE|7381238055^FormNumber||189693889^HospOrdNumber||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|7381238055^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBR|2|7381238055^FormNumber||57128-1^Newborn Screening Report summary panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241118030201 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241118030201 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241118030201 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241118030201 OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241118030201 OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\Amino Acid Panel: An immediate referral to a CCS Metabolic Center is strongly recommended. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241118030201 OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241118030201 OBR|3|7381238055^FormNumber||57717-1^Newborn screen card data panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241118030201 OBX|2|NM|8339-4^Birthweight^LN|1|2948|grams||N|||F|||20241118030201 OBX|3|TM|57715-5^Time of birth^LN|1|1318|||N|||F|||20241118030201 OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12412-5^Twins^LN|||N|||F|||20241118030201 OBX|5|NM|73806-2^Newborn age in hours^LN|1|3|hour(s)||N|||F|||20241118030201 OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241118030201 OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241118030201 OBX|8|TX|^^^99717-5^Accession Number^L|1|290-84-459/21-2024-21|||N|||F|||20241118030201 OBX|9|TX|62324-9^Post-discharge provider name^LN|1|MICHELLE LEFF|||N|||F|||20241118030201 OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241118030201 OBR|4|7381238055^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBR|5|7381238055^FormNumber||53261-4^Amino acid newborn screen panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241118030201 OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|�mol/L|<1000|N|||F|||20241118030201 OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241118030201 OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241118030201 OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|�mol/L|<230|N|||F|||20241118030201 OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241118030201 OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|�mol/L|<175|N|||F|||20241118030201 OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241118030201 OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|�mol/L|<680|N|||F|||20241118030201 OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|�mol/L|<6.1|N|||F|||20241118030201 OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|�mol/L|6.3-100|N|||F|||20241118030201 OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|275|�mol/L|5-49|H|||F|||20241118030201 OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|11|{Ratio}|<4.8|H|||F|||20241118030201 OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|�mol/L|<800|N|||F|||20241118030201 OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241118030201 OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|�mol/L|<63|N|||F|||20241118030201 OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241118030201 OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|�mol/L|<1500|N|||F|||20241118030201 OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|This pattern of elevations is consistent with Citrullinemia (I/II), ASAL Deficiency|||A|||F|||20241118030201 OBR|6|7381238055^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|7|7381238055^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|33|�mol/L|6.4-125|N|||F|||20241118030201 OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241118030201 OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|�mol/L|10-80|N|||F|||20241118030201 OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241118030201 OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|�mol/L|<0.95|N|||F|||20241118030201 OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|�mol/L|<0.45|N|||F|||20241118030201 OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241118030201 OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|�mol/L|<0.65|N|||F|||20241118030201 OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|�mol/L|<0.65|N|||F|||20241118030201 OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|�mol/L|<0.45|N|||F|||20241118030201 OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|�mol/L|<2|N|||F|||20241118030201 OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|�mol/L||N|||F|||20241118030201 OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|�mol/L|<1.2|N|||F|||20241118030201 OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|�mol/L|<0.9|N|||F|||20241118030201 OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241118030201 OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|�mol/L||N|||F|||20241118030201 OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|�mol/L|<0.2|N|||F|||20241118030201 OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|�mol/L|<12|N|||F|||20241118030201 OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|�mol/L|<1.4|N|||F|||20241118030201 OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241118030201 OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241118030201 OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|�mol/L|<3.5|N|||F|||20241118030201 OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|�mol/L|<7|N|||F|||20241118030201 OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|�mol/L||N|||F|||20241118030201 OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241118030201 OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241118030201 OBR|8|7381238055^FormNumber||57085-3^Organic acid newborn screen panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|�mol/L|<7.9|N|||F|||20241118030201 OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241118030201 OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|�mol/L|<0.48|N|||F|||20241118030201 OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|�mol/L|<1.7|N|||F|||20241118030201 OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|�mol/L|<0.95|N|||F|||20241118030201 OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241118030201 OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|�mol/L|<0.5|N|||F|||20241118030201 OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|�mol/L|<1.15|N|||F|||20241118030201 OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|�mol/L|<0.38|N|||F|||20241118030201 OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241118030201 OBR|9|7381238055^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241118030201 OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|10|7381238055^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<85|N|||F|||20241118030201 OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|11|7381238055^FormNumber||54090-6^Thyroid newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241118030201 OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|12|7381238055^FormNumber||54079-9^Galactosemia newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|55.00|enzyme units|>50|N|||F|||20241118030201 OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|13|7381238055^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241118030201 OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.�These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241118030201 OBR|14|7381238055^FormNumber||57087-9^Biotinidase newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241118030201 OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|15|7381238055^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/�L|>18|N|||F|||20241118030201 OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|16|7381238055^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|�mol/L/h|>=18.2|N|||F|||20241118030201 OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|17|7381238055^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|�mol/L/h|>=18.2|N|||F|||20241118030201 OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|18|7381238055^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241118030201 OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241118030201 OBR|19|7381238055^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|�mol/L/h|>=2.06|N|||F|||20241118030201 OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|20|7381238055^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|21|7381238055^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|�mol/L|<=3|N|||F|||20241118030201 OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|�mol/L||N|||F|||20241118030201 OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20241118030201 OBR|22|7381238055^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241118030201 OBR|23|7381238055^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|�mol/L|<0.47|N|||F|||20241118030201 +MSH|^~\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241118030201||ORU^R01^ORU_R01|005|N|2.5.1 PID|1||80015887^^^&NPI^MR||CDPHTHREE^BOY B MOMTHREE^^^^^B||202410161318|M||2131-1^Other Race||||||||||||UNK^Unknown||Y|2 NK1|1|CDPHTHREE^MOMTHREE|MTH^Mother|3 3RD ST^^SAN DIEGO^CA^92126^USA|^^^^^858^2490007|||||||||||20031007 ORC|RE|7381238055^FormNumber||189693889^HospOrdNumber||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|7381238055^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBR|2|7381238055^FormNumber||57128-1^Newborn Screening Report summary panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241118030201 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241118030201 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241118030201 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241118030201 OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241118030201 OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\Amino Acid Panel: An immediate referral to a CCS Metabolic Center is strongly recommended. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241118030201 OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241118030201 OBR|3|7381238055^FormNumber||57717-1^Newborn screen card data panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241118030201 OBX|2|NM|8339-4^Birthweight^LN|1|2948|grams||N|||F|||20241118030201 OBX|3|TM|57715-5^Time of birth^LN|1|1318|||N|||F|||20241118030201 OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12412-5^Twins^LN|||N|||F|||20241118030201 OBX|5|NM|73806-2^Newborn age in hours^LN|1|3|hour(s)||N|||F|||20241118030201 OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241118030201 OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241118030201 OBX|8|TX|^^^99717-5^Accession Number^L|1|290-84-459/21-2024-21|||N|||F|||20241118030201 OBX|9|TX|62324-9^Post-discharge provider name^LN|1|MICHELLE LEFF|||N|||F|||20241118030201 OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241118030201 OBR|4|7381238055^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBR|5|7381238055^FormNumber||53261-4^Amino acid newborn screen panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241118030201 OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|µmol/L|<1000|N|||F|||20241118030201 OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241118030201 OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241118030201 OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|µmol/L|<230|N|||F|||20241118030201 OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241118030201 OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|µmol/L|<175|N|||F|||20241118030201 OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241118030201 OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|µmol/L|<680|N|||F|||20241118030201 OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|µmol/L|<6.1|N|||F|||20241118030201 OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|µmol/L|6.3-100|N|||F|||20241118030201 OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|275|µmol/L|5-49|H|||F|||20241118030201 OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|11|{Ratio}|<4.8|H|||F|||20241118030201 OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|µmol/L|<800|N|||F|||20241118030201 OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241118030201 OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|µmol/L|<63|N|||F|||20241118030201 OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241118030201 OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|µmol/L|<1500|N|||F|||20241118030201 OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|This pattern of elevations is consistent with Citrullinemia (I/II), ASAL Deficiency|||A|||F|||20241118030201 OBR|6|7381238055^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|7|7381238055^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|33|µmol/L|6.4-125|N|||F|||20241118030201 OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241118030201 OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|µmol/L|10-80|N|||F|||20241118030201 OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241118030201 OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|µmol/L|<0.95|N|||F|||20241118030201 OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|µmol/L|<0.45|N|||F|||20241118030201 OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241118030201 OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|µmol/L|<0.65|N|||F|||20241118030201 OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|µmol/L|<0.65|N|||F|||20241118030201 OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|µmol/L|<0.45|N|||F|||20241118030201 OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|µmol/L|<2|N|||F|||20241118030201 OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|µmol/L||N|||F|||20241118030201 OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|µmol/L|<1.2|N|||F|||20241118030201 OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|µmol/L|<0.9|N|||F|||20241118030201 OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241118030201 OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|µmol/L||N|||F|||20241118030201 OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|µmol/L|<0.2|N|||F|||20241118030201 OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|µmol/L|<12|N|||F|||20241118030201 OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|µmol/L|<1.4|N|||F|||20241118030201 OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241118030201 OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241118030201 OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|µmol/L|<3.5|N|||F|||20241118030201 OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|µmol/L|<7|N|||F|||20241118030201 OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|µmol/L||N|||F|||20241118030201 OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241118030201 OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241118030201 OBR|8|7381238055^FormNumber||57085-3^Organic acid newborn screen panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|µmol/L|<7.9|N|||F|||20241118030201 OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241118030201 OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|µmol/L|<0.48|N|||F|||20241118030201 OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|µmol/L|<1.7|N|||F|||20241118030201 OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|µmol/L|<0.95|N|||F|||20241118030201 OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241118030201 OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|µmol/L|<0.5|N|||F|||20241118030201 OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|µmol/L|<1.15|N|||F|||20241118030201 OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|µmol/L|<0.38|N|||F|||20241118030201 OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241118030201 OBR|9|7381238055^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241118030201 OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|10|7381238055^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<85|N|||F|||20241118030201 OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|11|7381238055^FormNumber||54090-6^Thyroid newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241118030201 OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|12|7381238055^FormNumber||54079-9^Galactosemia newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|55.00|enzyme units|>50|N|||F|||20241118030201 OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|13|7381238055^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241118030201 OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.µThese results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241118030201 OBR|14|7381238055^FormNumber||57087-9^Biotinidase newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241118030201 OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|15|7381238055^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/µL|>18|N|||F|||20241118030201 OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|16|7381238055^FormNumber||63414-7^Pompe Disease newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|µmol/L/h|>=18.2|N|||F|||20241118030201 OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|17|7381238055^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|µmol/L/h|>=18.2|N|||F|||20241118030201 OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|18|7381238055^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241118030201 OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241118030201 OBR|19|7381238055^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|µmol/L/h|>=2.06|N|||F|||20241118030201 OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|20|7381238055^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241118030201 OBR|21|7381238055^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|µmol/L|<=3|N|||F|||20241118030201 OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|µmol/L||N|||F|||20241118030201 OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20241118030201 OBR|22|7381238055^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241118030201 OBR|23|7381238055^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202410161630|||||||||^HUBBARD^EUSTRATIA||||||20241118030201|||F OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|µmol/L|<0.47|N|||F|||20241118030201 diff --git a/examples/Test/Automated/GoldenCopy/Input/006_CA_ORU_R01_CDPH_UCSD_189716938_pre_TI_TC002A.hl7 b/examples/Test/Automated/GoldenCopy/Input/006_CA_ORU_R01_CDPH_UCSD_189716938_pre_TI_TC002A.hl7 index 7ba118a0f..0eaaa5f50 100644 --- a/examples/Test/Automated/GoldenCopy/Input/006_CA_ORU_R01_CDPH_UCSD_189716938_pre_TI_TC002A.hl7 +++ b/examples/Test/Automated/GoldenCopy/Input/006_CA_ORU_R01_CDPH_UCSD_189716938_pre_TI_TC002A.hl7 @@ -1 +1 @@ -MSH|^~\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241203094445||ORU^R01^ORU_R01|006|N|2.5.1 PID|1||80015959^^^&NPI^MR||INTERFACE^GIRL B CDPHTWO^^^^^B||20241118084900|F||2028-9^Asian||||||||||||2186-5^Not Hispanic or Latino||Y|2 NK1|1|INTERFACE^CDPHTWO|MTH^Mother|9877 7TH ST^^SAN DIEGO^CA^92126^USA|^^^^^619^4704213|||||||||||19961118 ORC|RE|7872697780^FormNumber||189716938^HospOrdNumber||||||||1427255868^JOHNSON^KATHRYN^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|7872697780^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBR|2|7872697780^FormNumber||57128-1^Newborn Screening Report summary panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241203094445 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241203094445 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241203094445 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|99717-3^Hypothyroidism^L|||N|||F|||20241203094445 OBX|5|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|2|LA12543-7^GALT^LN|||N|||F|||20241203094445 OBX|6|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|3|LA22279-6^SMA^LN|||N|||F|||20241203094445 OBX|7|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|4|LA30113-7^GAMT^LN|||N|||F|||20241203094445 OBX|8|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|5|LA12532-0^BIO^LN|||N|||F|||20241203094445 OBX|9|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241203094445 OBX|10|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\Biotinidase Deficiency: This screen for Biotinidase Deficiency was positive. Another specimen MUST be collected on this infant. \.br\\.br\Guanidinoacetate Methyltransferase (GAMT): An immediate referral to a CCS-approved Metabolic Center for evaluation and additional testing is strongly recommended. \.br\\.br\Spinal Muscular Atrophy (SMA): An immediate referral to a CCS-approved Neuromuscular Center for evaluation and additional testing is strongly recommended due an apparent SMN1 exon 7 homozygous deletion. \.br\\.br\Galactosemia: Additional testing is required to rule out disorder.�Call your Newborn Screening Coordinator for assistance. \.br\\.br\Primary Congenital Hypothyroidism: Additional testing in consultation with a CCS-approved Endocrine Center or Pediatric Endocrinologist is strongly recommended.�Call your Newborn Screening Coordinator for assistance. \.br\\.br\ATTENTION: THIS CHILD HAS TESTED POSITIVE FOR MORE THAN ONE TEST. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241203094445 OBX|11|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241203094445 OBR|3|7872697780^FormNumber||57717-1^Newborn screen card data panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241203094445 OBX|2|NM|8339-4^Birthweight^LN|1|2495|grams||N|||F|||20241203094445 OBX|3|TM|57715-5^Time of birth^LN|1|8490|||N|||F|||20241203094445 OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12412-5^Twins^LN|||N|||F|||20241203094445 OBX|5|NM|73806-2^Newborn age in hours^LN|1|82|hour(s)||N|||F|||20241203094445 OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241203094445 OBX|7|CE|67704-7^Feeding types^LN|1|LA16915-3^Lactose formula^LN|||N|||F|||20241203094445 OBX|8|TX|^^^99717-5^Accession Number^L|1|326-64-675/21-2024-21|||N|||F|||20241203094445 OBX|9|TX|62324-9^Post-discharge provider name^LN|1|MICHELLE LEFF|||N|||F|||20241203094445 OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241203094445 OBR|4|7872697780^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBR|5|7872697780^FormNumber||53261-4^Amino acid newborn screen panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241203094445 OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|�mol/L|<1000|N|||F|||20241203094445 OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241203094445 OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241203094445 OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|�mol/L|<230|N|||F|||20241203094445 OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241203094445 OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|�mol/L|<175|N|||F|||20241203094445 OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241203094445 OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|�mol/L|<680|N|||F|||20241203094445 OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|�mol/L|<6.1|N|||F|||20241203094445 OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|�mol/L|6.3-100|N|||F|||20241203094445 OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|�mol/L|5-49|N|||F|||20241203094445 OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241203094445 OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|�mol/L|<800|N|||F|||20241203094445 OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241203094445 OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|�mol/L|<63|N|||F|||20241203094445 OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241203094445 OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|�mol/L|<1500|N|||F|||20241203094445 OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241203094445 OBR|6|7872697780^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241203094445 OBR|7|7872697780^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|33|�mol/L|6.4-125|N|||F|||20241203094445 OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241203094445 OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|�mol/L|10-80|N|||F|||20241203094445 OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241203094445 OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|�mol/L|<0.95|N|||F|||20241203094445 OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|�mol/L|<0.45|N|||F|||20241203094445 OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241203094445 OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|�mol/L|<0.65|N|||F|||20241203094445 OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|�mol/L|<0.65|N|||F|||20241203094445 OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|�mol/L|<0.45|N|||F|||20241203094445 OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|�mol/L|<2|N|||F|||20241203094445 OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|�mol/L||N|||F|||20241203094445 OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|�mol/L|<1.2|N|||F|||20241203094445 OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|�mol/L|<0.9|N|||F|||20241203094445 OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241203094445 OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|�mol/L||N|||F|||20241203094445 OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|�mol/L|<0.2|N|||F|||20241203094445 OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|�mol/L|<12|N|||F|||20241203094445 OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|�mol/L|<1.4|N|||F|||20241203094445 OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241203094445 OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241203094445 OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|�mol/L|<3.5|N|||F|||20241203094445 OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|�mol/L|<7|N|||F|||20241203094445 OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|�mol/L||N|||F|||20241203094445 OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241203094445 OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241203094445 OBR|8|7872697780^FormNumber||57085-3^Organic acid newborn screen panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|�mol/L|<7.9|N|||F|||20241203094445 OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241203094445 OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|�mol/L|<0.48|N|||F|||20241203094445 OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|�mol/L|<1.7|N|||F|||20241203094445 OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|�mol/L|<0.95|N|||F|||20241203094445 OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241203094445 OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|�mol/L|<0.5|N|||F|||20241203094445 OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|�mol/L|<1.15|N|||F|||20241203094445 OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|�mol/L|<0.38|N|||F|||20241203094445 OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241203094445 OBR|9|7872697780^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241203094445 OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241203094445 OBR|10|7872697780^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<190|N|||F|||20241203094445 OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241203094445 OBR|11|7872697780^FormNumber||54090-6^Thyroid newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|29575-8^Thyrotropin^LN|1|34.00|mIU/L|<29|H|||F|||20241203094445 OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241203094445 OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241203094445 OBR|12|7872697780^FormNumber||54079-9^Galactosemia newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|48.00|enzyme units|>50|L|||F|||20241203094445 OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241203094445 OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241203094445 OBR|13|7872697780^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241203094445 OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.�These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241203094445 OBR|14|7872697780^FormNumber||57087-9^Biotinidase newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|8.00|ERU|>10|L|||F|||20241203094445 OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241203094445 OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241203094445 OBR|15|7872697780^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/�L|>18|N|||F|||20241203094445 OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241203094445 OBR|16|7872697780^FormNumber||63414-7^Pompe Disease newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|�mol/L/h|>=18.2|N|||F|||20241203094445 OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241203094445 OBR|17|7872697780^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|�mol/L/h|>=18.2|N|||F|||20241203094445 OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241203094445 OBR|18|7872697780^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Absent||Exon 7 Present|A|||F|||20241203094445 OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241203094445 OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Positive|||A|||F|||20241203094445 OBR|19|7872697780^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|�mol/L/h|>=2.06|N|||F|||20241203094445 OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241203094445 OBR|20|7872697780^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241203094445 OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Positive|||A|||F|||20241203094445 OBR|21|7872697780^FormNumber||^^^99717-57^Guanidinoacetate methyltransferase Tier-2 newborn screening panel^L|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|5.25|�mol/L/h|<=5|H|||F|||20241203094445 OBR|22|7872697780^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241203094445 OBR|23|7872697780^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|�mol/L|<0.47|N|||F|||20241203094445 +MSH|^~\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241203094445||ORU^R01^ORU_R01|006|N|2.5.1 PID|1||80015959^^^&NPI^MR||INTERFACE^GIRL B CDPHTWO^^^^^B||20241118084900|F||2028-9^Asian||||||||||||2186-5^Not Hispanic or Latino||Y|2 NK1|1|INTERFACE^CDPHTWO|MTH^Mother|9877 7TH ST^^SAN DIEGO^CA^92126^USA|^^^^^619^4704213|||||||||||19961118 ORC|RE|7872697780^FormNumber||189716938^HospOrdNumber||||||||1427255868^JOHNSON^KATHRYN^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|7872697780^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBR|2|7872697780^FormNumber||57128-1^Newborn Screening Report summary panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241203094445 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241203094445 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241203094445 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|99717-3^Hypothyroidism^L|||N|||F|||20241203094445 OBX|5|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|2|LA12543-7^GALT^LN|||N|||F|||20241203094445 OBX|6|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|3|LA22279-6^SMA^LN|||N|||F|||20241203094445 OBX|7|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|4|LA30113-7^GAMT^LN|||N|||F|||20241203094445 OBX|8|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|5|LA12532-0^BIO^LN|||N|||F|||20241203094445 OBX|9|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241203094445 OBX|10|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\Biotinidase Deficiency: This screen for Biotinidase Deficiency was positive. Another specimen MUST be collected on this infant. \.br\\.br\Guanidinoacetate Methyltransferase (GAMT): An immediate referral to a CCS-approved Metabolic Center for evaluation and additional testing is strongly recommended. \.br\\.br\Spinal Muscular Atrophy (SMA): An immediate referral to a CCS-approved Neuromuscular Center for evaluation and additional testing is strongly recommended due an apparent SMN1 exon 7 homozygous deletion. \.br\\.br\Galactosemia: Additional testing is required to rule out disorder.µCall your Newborn Screening Coordinator for assistance. \.br\\.br\Primary Congenital Hypothyroidism: Additional testing in consultation with a CCS-approved Endocrine Center or Pediatric Endocrinologist is strongly recommended.µCall your Newborn Screening Coordinator for assistance. \.br\\.br\ATTENTION: THIS CHILD HAS TESTED POSITIVE FOR MORE THAN ONE TEST. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241203094445 OBX|11|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241203094445 OBR|3|7872697780^FormNumber||57717-1^Newborn screen card data panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241203094445 OBX|2|NM|8339-4^Birthweight^LN|1|2495|grams||N|||F|||20241203094445 OBX|3|TM|57715-5^Time of birth^LN|1|8490|||N|||F|||20241203094445 OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12412-5^Twins^LN|||N|||F|||20241203094445 OBX|5|NM|73806-2^Newborn age in hours^LN|1|82|hour(s)||N|||F|||20241203094445 OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241203094445 OBX|7|CE|67704-7^Feeding types^LN|1|LA16915-3^Lactose formula^LN|||N|||F|||20241203094445 OBX|8|TX|^^^99717-5^Accession Number^L|1|326-64-675/21-2024-21|||N|||F|||20241203094445 OBX|9|TX|62324-9^Post-discharge provider name^LN|1|MICHELLE LEFF|||N|||F|||20241203094445 OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241203094445 OBR|4|7872697780^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBR|5|7872697780^FormNumber||53261-4^Amino acid newborn screen panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241203094445 OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|µmol/L|<1000|N|||F|||20241203094445 OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241203094445 OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241203094445 OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|µmol/L|<230|N|||F|||20241203094445 OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241203094445 OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|µmol/L|<175|N|||F|||20241203094445 OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241203094445 OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|µmol/L|<680|N|||F|||20241203094445 OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|µmol/L|<6.1|N|||F|||20241203094445 OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|µmol/L|6.3-100|N|||F|||20241203094445 OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|µmol/L|5-49|N|||F|||20241203094445 OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241203094445 OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|µmol/L|<800|N|||F|||20241203094445 OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241203094445 OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|µmol/L|<63|N|||F|||20241203094445 OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241203094445 OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|µmol/L|<1500|N|||F|||20241203094445 OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241203094445 OBR|6|7872697780^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241203094445 OBR|7|7872697780^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|33|µmol/L|6.4-125|N|||F|||20241203094445 OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241203094445 OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|µmol/L|10-80|N|||F|||20241203094445 OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241203094445 OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|µmol/L|<0.95|N|||F|||20241203094445 OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|µmol/L|<0.45|N|||F|||20241203094445 OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241203094445 OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|µmol/L|<0.65|N|||F|||20241203094445 OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|µmol/L|<0.65|N|||F|||20241203094445 OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|µmol/L|<0.45|N|||F|||20241203094445 OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|µmol/L|<2|N|||F|||20241203094445 OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|µmol/L||N|||F|||20241203094445 OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|µmol/L|<1.2|N|||F|||20241203094445 OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|µmol/L|<0.9|N|||F|||20241203094445 OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241203094445 OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|µmol/L||N|||F|||20241203094445 OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|µmol/L|<0.2|N|||F|||20241203094445 OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|µmol/L|<12|N|||F|||20241203094445 OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|µmol/L|<1.4|N|||F|||20241203094445 OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241203094445 OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241203094445 OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|µmol/L|<3.5|N|||F|||20241203094445 OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|µmol/L|<7|N|||F|||20241203094445 OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|µmol/L||N|||F|||20241203094445 OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241203094445 OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241203094445 OBR|8|7872697780^FormNumber||57085-3^Organic acid newborn screen panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|µmol/L|<7.9|N|||F|||20241203094445 OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241203094445 OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|µmol/L|<0.48|N|||F|||20241203094445 OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|µmol/L|<1.7|N|||F|||20241203094445 OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|µmol/L|<0.95|N|||F|||20241203094445 OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241203094445 OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|µmol/L|<0.5|N|||F|||20241203094445 OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|µmol/L|<1.15|N|||F|||20241203094445 OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|µmol/L|<0.38|N|||F|||20241203094445 OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241203094445 OBR|9|7872697780^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241203094445 OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241203094445 OBR|10|7872697780^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<190|N|||F|||20241203094445 OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241203094445 OBR|11|7872697780^FormNumber||54090-6^Thyroid newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|29575-8^Thyrotropin^LN|1|34.00|mIU/L|<29|H|||F|||20241203094445 OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241203094445 OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241203094445 OBR|12|7872697780^FormNumber||54079-9^Galactosemia newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|48.00|enzyme units|>50|L|||F|||20241203094445 OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241203094445 OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241203094445 OBR|13|7872697780^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241203094445 OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.µThese results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241203094445 OBR|14|7872697780^FormNumber||57087-9^Biotinidase newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|8.00|ERU|>10|L|||F|||20241203094445 OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241203094445 OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241203094445 OBR|15|7872697780^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/µL|>18|N|||F|||20241203094445 OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241203094445 OBR|16|7872697780^FormNumber||63414-7^Pompe Disease newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|µmol/L/h|>=18.2|N|||F|||20241203094445 OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241203094445 OBR|17|7872697780^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|µmol/L/h|>=18.2|N|||F|||20241203094445 OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241203094445 OBR|18|7872697780^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Absent||Exon 7 Present|A|||F|||20241203094445 OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241203094445 OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Positive|||A|||F|||20241203094445 OBR|19|7872697780^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|µmol/L/h|>=2.06|N|||F|||20241203094445 OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241203094445 OBR|20|7872697780^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241203094445 OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Positive|||A|||F|||20241203094445 OBR|21|7872697780^FormNumber||^^^99717-57^Guanidinoacetate methyltransferase Tier-2 newborn screening panel^L|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|5.25|µmol/L/h|<=5|H|||F|||20241203094445 OBR|22|7872697780^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241203094445 OBR|23|7872697780^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202411211003|||||||||^JOHNSON^KATHRYN||||||20241203094445|||F OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|µmol/L|<0.47|N|||F|||20241203094445 diff --git a/examples/Test/Automated/GoldenCopy/Input/007_CA_ORU_R01_CDPH_UCSD_189717091_80015955_pre_TI_TC007A.hl7 b/examples/Test/Automated/GoldenCopy/Input/007_CA_ORU_R01_CDPH_UCSD_189717091_80015955_pre_TI_TC007A.hl7 index 1c6a29d54..32f024724 100644 --- a/examples/Test/Automated/GoldenCopy/Input/007_CA_ORU_R01_CDPH_UCSD_189717091_80015955_pre_TI_TC007A.hl7 +++ b/examples/Test/Automated/GoldenCopy/Input/007_CA_ORU_R01_CDPH_UCSD_189717091_80015955_pre_TI_TC007A.hl7 @@ -1 +1 @@ -MSH|^~\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241206093739||ORU^R01^ORU_R01|007|N|2.5.1 PID|1||80015955^^^&NPI^MR||INTERFACE^BOY A CDPHONE^^^^^B||202411180830|M||2028-9^Asian||||||||||||2186-5^Not Hispanic or Latino||Y|1 NK1|1|INTERFACE^CDPHONE|MTH^Mother|456 ST^^SAN DIEGO^CA^92123^USA|^^^^^858^2490016|||||||||||19921118 ORC|RE|7902698491^FormNumber||189717091^HospOrdNumber||||||||1427255868^JOHNSON^KATHRYN^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|7902698491^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBR|2|7902698491^FormNumber||57128-1^Newborn Screening Report summary panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241206093739 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241206093739 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241206093739 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA12566-8^SCID^LN|||N|||F|||20241206093739 OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241206093739 OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\SCID: A liquid blood specimen for CBC differential and flow cytometry at Quest Diagnostics is required to rule out or confirm SCID or a related immune disorder. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241206093739 OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241206093739 OBR|3|7902698491^FormNumber||57717-1^Newborn screen card data panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241206093739 OBX|2|NM|8339-4^Birthweight^LN|1|2722|grams||N|||F|||20241206093739 OBX|3|TM|57715-5^Time of birth^LN|1|0830|||N|||F|||20241206093739 OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241206093739 OBX|5|NM|73806-2^Newborn age in hours^LN|1|73|hour(s)||N|||F|||20241206093739 OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241206093739 OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241206093739 OBX|8|TX|^^^99717-5^Accession Number^L|1|326-65-211/21-2024-21|||N|||F|||20241206093739 OBX|9|TX|62324-9^Post-discharge provider name^LN|1|KRISHELLE MARC-AURELE|||N|||F|||20241206093739 OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241206093739 OBR|4|7902698491^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBR|5|7902698491^FormNumber||53261-4^Amino acid newborn screen panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241206093739 OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|�mol/L|<1000|N|||F|||20241206093739 OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241206093739 OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241206093739 OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|�mol/L|<230|N|||F|||20241206093739 OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241206093739 OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|�mol/L|<175|N|||F|||20241206093739 OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241206093739 OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|�mol/L|<680|N|||F|||20241206093739 OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|�mol/L|<6.1|N|||F|||20241206093739 OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|�mol/L|6.3-100|N|||F|||20241206093739 OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|�mol/L|5-49|N|||F|||20241206093739 OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241206093739 OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|�mol/L|<800|N|||F|||20241206093739 OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241206093739 OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|�mol/L|<63|N|||F|||20241206093739 OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241206093739 OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|�mol/L|<1500|N|||F|||20241206093739 OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|6|7902698491^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|7|7902698491^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|33|�mol/L|6.4-125|N|||F|||20241206093739 OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241206093739 OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|�mol/L|10-80|N|||F|||20241206093739 OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241206093739 OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|�mol/L|<0.95|N|||F|||20241206093739 OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|�mol/L|<0.45|N|||F|||20241206093739 OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241206093739 OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|�mol/L|<0.65|N|||F|||20241206093739 OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|�mol/L|<0.65|N|||F|||20241206093739 OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|�mol/L|<0.45|N|||F|||20241206093739 OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|�mol/L|<2|N|||F|||20241206093739 OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|�mol/L||N|||F|||20241206093739 OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|�mol/L|<1.2|N|||F|||20241206093739 OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|�mol/L|<0.9|N|||F|||20241206093739 OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241206093739 OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|�mol/L||N|||F|||20241206093739 OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|�mol/L|<0.2|N|||F|||20241206093739 OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|�mol/L|<12|N|||F|||20241206093739 OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|�mol/L|<1.4|N|||F|||20241206093739 OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241206093739 OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241206093739 OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|�mol/L|<3.5|N|||F|||20241206093739 OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|�mol/L|<7|N|||F|||20241206093739 OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|�mol/L||N|||F|||20241206093739 OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241206093739 OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241206093739 OBR|8|7902698491^FormNumber||57085-3^Organic acid newborn screen panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|�mol/L|<7.9|N|||F|||20241206093739 OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241206093739 OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|�mol/L|<0.48|N|||F|||20241206093739 OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|�mol/L|<1.7|N|||F|||20241206093739 OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|�mol/L|<0.95|N|||F|||20241206093739 OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241206093739 OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|�mol/L|<0.5|N|||F|||20241206093739 OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|�mol/L|<1.15|N|||F|||20241206093739 OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|�mol/L|<0.38|N|||F|||20241206093739 OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241206093739 OBR|9|7902698491^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241206093739 OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|10|7902698491^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<85|N|||F|||20241206093739 OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|11|7902698491^FormNumber||54090-6^Thyroid newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241206093739 OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|12|7902698491^FormNumber||54079-9^Galactosemia newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|55.00|enzyme units|>50|N|||F|||20241206093739 OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|13|7902698491^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241206093739 OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.�These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241206093739 OBR|14|7902698491^FormNumber||57087-9^Biotinidase newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241206093739 OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|15|7902698491^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|2|copies/�L|>18|L|||F|||20241206093739 OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241206093739 OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241206093739 OBR|16|7902698491^FormNumber||63414-7^Pompe Disease newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|�mol/L/h|>=18.2|N|||F|||20241206093739 OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|17|7902698491^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|�mol/L/h|>=18.2|N|||F|||20241206093739 OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|18|7902698491^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241206093739 OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241206093739 OBR|19|7902698491^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|�mol/L/h|>=2.06|N|||F|||20241206093739 OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|20|7902698491^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|21|7902698491^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|�mol/L|<=3|N|||F|||20241206093739 OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|�mol/L||N|||F|||20241206093739 OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20241206093739 OBR|22|7902698491^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241206093739 OBR|23|7902698491^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|�mol/L|<0.47|N|||F|||20241206093739 +MSH|^~\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241206093739||ORU^R01^ORU_R01|007|N|2.5.1 PID|1||80015955^^^&NPI^MR||INTERFACE^BOY A CDPHONE^^^^^B||202411180830|M||2028-9^Asian||||||||||||2186-5^Not Hispanic or Latino||Y|1 NK1|1|INTERFACE^CDPHONE|MTH^Mother|456 ST^^SAN DIEGO^CA^92123^USA|^^^^^858^2490016|||||||||||19921118 ORC|RE|7902698491^FormNumber||189717091^HospOrdNumber||||||||1427255868^JOHNSON^KATHRYN^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|7902698491^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBR|2|7902698491^FormNumber||57128-1^Newborn Screening Report summary panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241206093739 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241206093739 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241206093739 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA12566-8^SCID^LN|||N|||F|||20241206093739 OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241206093739 OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\SCID: A liquid blood specimen for CBC differential and flow cytometry at Quest Diagnostics is required to rule out or confirm SCID or a related immune disorder. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241206093739 OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241206093739 OBR|3|7902698491^FormNumber||57717-1^Newborn screen card data panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241206093739 OBX|2|NM|8339-4^Birthweight^LN|1|2722|grams||N|||F|||20241206093739 OBX|3|TM|57715-5^Time of birth^LN|1|0830|||N|||F|||20241206093739 OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241206093739 OBX|5|NM|73806-2^Newborn age in hours^LN|1|73|hour(s)||N|||F|||20241206093739 OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241206093739 OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241206093739 OBX|8|TX|^^^99717-5^Accession Number^L|1|326-65-211/21-2024-21|||N|||F|||20241206093739 OBX|9|TX|62324-9^Post-discharge provider name^LN|1|KRISHELLE MARC-AURELE|||N|||F|||20241206093739 OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241206093739 OBR|4|7902698491^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBR|5|7902698491^FormNumber||53261-4^Amino acid newborn screen panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241206093739 OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|µmol/L|<1000|N|||F|||20241206093739 OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241206093739 OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241206093739 OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|µmol/L|<230|N|||F|||20241206093739 OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241206093739 OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|µmol/L|<175|N|||F|||20241206093739 OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241206093739 OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|µmol/L|<680|N|||F|||20241206093739 OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|µmol/L|<6.1|N|||F|||20241206093739 OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|µmol/L|6.3-100|N|||F|||20241206093739 OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|µmol/L|5-49|N|||F|||20241206093739 OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241206093739 OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|µmol/L|<800|N|||F|||20241206093739 OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241206093739 OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|µmol/L|<63|N|||F|||20241206093739 OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241206093739 OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|µmol/L|<1500|N|||F|||20241206093739 OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|6|7902698491^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|7|7902698491^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|33|µmol/L|6.4-125|N|||F|||20241206093739 OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241206093739 OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|µmol/L|10-80|N|||F|||20241206093739 OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241206093739 OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|µmol/L|<0.95|N|||F|||20241206093739 OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|µmol/L|<0.45|N|||F|||20241206093739 OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241206093739 OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|µmol/L|<0.65|N|||F|||20241206093739 OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|µmol/L|<0.65|N|||F|||20241206093739 OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|µmol/L|<0.45|N|||F|||20241206093739 OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|µmol/L|<2|N|||F|||20241206093739 OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|µmol/L||N|||F|||20241206093739 OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|µmol/L|<1.2|N|||F|||20241206093739 OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|µmol/L|<0.9|N|||F|||20241206093739 OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241206093739 OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|µmol/L||N|||F|||20241206093739 OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|µmol/L|<0.2|N|||F|||20241206093739 OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|µmol/L|<12|N|||F|||20241206093739 OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|µmol/L|<1.4|N|||F|||20241206093739 OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241206093739 OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241206093739 OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|µmol/L|<3.5|N|||F|||20241206093739 OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|µmol/L|<7|N|||F|||20241206093739 OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|µmol/L||N|||F|||20241206093739 OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241206093739 OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241206093739 OBR|8|7902698491^FormNumber||57085-3^Organic acid newborn screen panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|µmol/L|<7.9|N|||F|||20241206093739 OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241206093739 OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|µmol/L|<0.48|N|||F|||20241206093739 OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|µmol/L|<1.7|N|||F|||20241206093739 OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|µmol/L|<0.95|N|||F|||20241206093739 OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241206093739 OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|µmol/L|<0.5|N|||F|||20241206093739 OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|µmol/L|<1.15|N|||F|||20241206093739 OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|µmol/L|<0.38|N|||F|||20241206093739 OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241206093739 OBR|9|7902698491^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241206093739 OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|10|7902698491^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<85|N|||F|||20241206093739 OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|11|7902698491^FormNumber||54090-6^Thyroid newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241206093739 OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|12|7902698491^FormNumber||54079-9^Galactosemia newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|55.00|enzyme units|>50|N|||F|||20241206093739 OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|13|7902698491^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241206093739 OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.µThese results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241206093739 OBR|14|7902698491^FormNumber||57087-9^Biotinidase newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241206093739 OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|15|7902698491^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|2|copies/µL|>18|L|||F|||20241206093739 OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241206093739 OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241206093739 OBR|16|7902698491^FormNumber||63414-7^Pompe Disease newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|µmol/L/h|>=18.2|N|||F|||20241206093739 OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|17|7902698491^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|µmol/L/h|>=18.2|N|||F|||20241206093739 OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|18|7902698491^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241206093739 OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241206093739 OBR|19|7902698491^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|µmol/L/h|>=2.06|N|||F|||20241206093739 OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|20|7902698491^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241206093739 OBR|21|7902698491^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|µmol/L|<=3|N|||F|||20241206093739 OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|µmol/L||N|||F|||20241206093739 OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20241206093739 OBR|22|7902698491^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241206093739 OBR|23|7902698491^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202411211015|||||||||^JOHNSON^KATHRYN||||||20241206093739|||F OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|µmol/L|<0.47|N|||F|||20241206093739 diff --git a/examples/Test/Automated/GoldenCopy/Input/009_CA_ORU_R01_CDPH_UCSD_MRN_80009320_pre_TI_TC001_Corrected.hl7 b/examples/Test/Automated/GoldenCopy/Input/009_CA_ORU_R01_CDPH_UCSD_MRN_80009320_pre_TI_TC001_Corrected.hl7 index a16c55aa1..2914afa46 100644 --- a/examples/Test/Automated/GoldenCopy/Input/009_CA_ORU_R01_CDPH_UCSD_MRN_80009320_pre_TI_TC001_Corrected.hl7 +++ b/examples/Test/Automated/GoldenCopy/Input/009_CA_ORU_R01_CDPH_UCSD_MRN_80009320_pre_TI_TC001_Corrected.hl7 @@ -1 +1 @@ -MSH|^~\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241211115659||ORU^R01^ORU_R01|009|N|2.5.1 PID|1||80009320^^^&NPI^MR||NEWBORNSCREEN^BOY RED^^^^^B||202408150826|M||1002-5^American Indian or Alaska Native||||||||||||2186-5^Not Hispanic or Latino||N|1 NK1|1|NEWBORNSCREEN^RED|MTH^Mother|9560 TOWNE CENTRE DR^^SAN DIEGO^CA^92121-1972^USA|^^^^^619^1234567|||||||||||19850426 ORC|RE|7341237093^FormNumber||189671588^HospOrdNumber||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|7341237093^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBR|2|7341237093^FormNumber||57128-1^Newborn Screening Report summary panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241211115659 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241211115659 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241211115659 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA12543-7^GALT^LN|||N|||F|||20241211115659 OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241211115659 OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\Acyl Carnitine Panel: Reference Ranges for acylcarnitines are based on specimens collected on newborns who are less than 10 days old. \.br\\.br\Galactosemia: Additional testing is required to rule out disorder.�Call your Newborn Screening Coordinator for assistance. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241211115659 OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241211115659 OBR|3|7341237093^FormNumber||57717-1^Newborn screen card data panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241211115659 OBX|2|NM|8339-4^Birthweight^LN|1|3084|grams||N|||F|||20241211115659 OBX|3|TM|57715-5^Time of birth^LN|1|0826|||N|||F|||20241211115659 OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241211115659 OBX|5|NM|73806-2^Newborn age in hours^LN|1|46|day(s)||N|||F|||20241211115659 OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241211115659 OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241211115659 OBX|8|TX|^^^99717-5^Accession Number^L|1|275-71-453/21-2024-21|||N|||F|||20241211115659 OBX|9|TX|62324-9^Post-discharge provider name^LN|1|MARVIN ZAGULI|||N|||F|||20241211115659 OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241211115659 OBR|4|7341237093^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBR|5|7341237093^FormNumber||53261-4^Amino acid newborn screen panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241211115659 OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|�mol/L|<1000|N|||F|||20241211115659 OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241211115659 OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241211115659 OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|�mol/L|<230|N|||F|||20241211115659 OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241211115659 OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|�mol/L|<175|N|||F|||20241211115659 OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241211115659 OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|�mol/L|<680|N|||F|||20241211115659 OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|�mol/L|<6.1|N|||F|||20241211115659 OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|�mol/L|6.3-100|N|||F|||20241211115659 OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|�mol/L|5-49|N|||F|||20241211115659 OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241211115659 OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|�mol/L|<800|N|||F|||20241211115659 OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241211115659 OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|�mol/L|<63|N|||F|||20241211115659 OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241211115659 OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|�mol/L|<1500|N|||F|||20241211115659 OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|6|7341237093^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|7|7341237093^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|33|�mol/L|6.4-125|N|||F|||20241211115659 OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241211115659 OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|�mol/L|10-80|N|||F|||20241211115659 OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241211115659 OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|�mol/L|<0.95|N|||F|||20241211115659 OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|�mol/L|<0.45|N|||F|||20241211115659 OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241211115659 OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|�mol/L|<0.65|N|||F|||20241211115659 OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|�mol/L|<0.65|N|||F|||20241211115659 OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|�mol/L|<0.45|N|||F|||20241211115659 OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|�mol/L|<2|N|||F|||20241211115659 OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|�mol/L||N|||F|||20241211115659 OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|�mol/L|<1.2|N|||F|||20241211115659 OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|�mol/L|<0.9|N|||F|||20241211115659 OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241211115659 OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|�mol/L||N|||F|||20241211115659 OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|�mol/L|<0.2|N|||F|||20241211115659 OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|�mol/L|<12|N|||F|||20241211115659 OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|�mol/L|<1.4|N|||F|||20241211115659 OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241211115659 OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241211115659 OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|�mol/L|<3.5|N|||F|||20241211115659 OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|�mol/L|<7|N|||F|||20241211115659 OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|�mol/L||N|||F|||20241211115659 OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241211115659 OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241211115659 OBR|8|7341237093^FormNumber||57085-3^Organic acid newborn screen panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|�mol/L|<7.9|N|||F|||20241211115659 OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241211115659 OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|�mol/L|<0.48|N|||F|||20241211115659 OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|�mol/L|<1.7|N|||F|||20241211115659 OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|�mol/L|<0.95|N|||F|||20241211115659 OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241211115659 OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|�mol/L|<0.5|N|||F|||20241211115659 OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|�mol/L|<1.15|N|||F|||20241211115659 OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|�mol/L|<0.38|N|||F|||20241211115659 OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241211115659 OBR|9|7341237093^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241211115659 OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|10|7341237093^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<85|N|||F|||20241211115659 OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|11|7341237093^FormNumber||54090-6^Thyroid newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241211115659 OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|12|7341237093^FormNumber||54079-9^Galactosemia newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|48.00|enzyme units|>50|L|||F|||20241211115659 OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241211115659 OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241211115659 OBR|13|7341237093^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241211115659 OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.�These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241211115659 OBR|14|7341237093^FormNumber||57087-9^Biotinidase newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241211115659 OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|15|7341237093^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/�L|>18|N|||F|||20241211115659 OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|16|7341237093^FormNumber||63414-7^Pompe Disease newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|�mol/L/h|>=18.2|N|||F|||20241211115659 OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|17|7341237093^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|�mol/L/h|>=18.2|N|||F|||20241211115659 OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|18|7341237093^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241211115659 OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241211115659 OBR|19|7341237093^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|�mol/L/h|>=2.06|N|||F|||20241211115659 OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|20|7341237093^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|21|7341237093^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|�mol/L|<=3|N|||F|||20241211115659 OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|�mol/L||N|||F|||20241211115659 OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20241211115659 OBR|22|7341237093^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241211115659 OBR|23|7341237093^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|�mol/L|<0.47|N|||F|||20241211115659 +MSH|^~\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241211115659||ORU^R01^ORU_R01|009|N|2.5.1 PID|1||80009320^^^&NPI^MR||NEWBORNSCREEN^BOY RED^^^^^B||202408150826|M||1002-5^American Indian or Alaska Native||||||||||||2186-5^Not Hispanic or Latino||N|1 NK1|1|NEWBORNSCREEN^RED|MTH^Mother|9560 TOWNE CENTRE DR^^SAN DIEGO^CA^92121-1972^USA|^^^^^619^1234567|||||||||||19850426 ORC|RE|7341237093^FormNumber||189671588^HospOrdNumber||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|7341237093^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBR|2|7341237093^FormNumber||57128-1^Newborn Screening Report summary panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241211115659 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241211115659 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241211115659 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA12543-7^GALT^LN|||N|||F|||20241211115659 OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241211115659 OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\Acyl Carnitine Panel: Reference Ranges for acylcarnitines are based on specimens collected on newborns who are less than 10 days old. \.br\\.br\Galactosemia: Additional testing is required to rule out disorder.µCall your Newborn Screening Coordinator for assistance. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241211115659 OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241211115659 OBR|3|7341237093^FormNumber||57717-1^Newborn screen card data panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241211115659 OBX|2|NM|8339-4^Birthweight^LN|1|3084|grams||N|||F|||20241211115659 OBX|3|TM|57715-5^Time of birth^LN|1|0826|||N|||F|||20241211115659 OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241211115659 OBX|5|NM|73806-2^Newborn age in hours^LN|1|46|day(s)||N|||F|||20241211115659 OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241211115659 OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241211115659 OBX|8|TX|^^^99717-5^Accession Number^L|1|275-71-453/21-2024-21|||N|||F|||20241211115659 OBX|9|TX|62324-9^Post-discharge provider name^LN|1|MARVIN ZAGULI|||N|||F|||20241211115659 OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241211115659 OBR|4|7341237093^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBR|5|7341237093^FormNumber||53261-4^Amino acid newborn screen panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241211115659 OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|µmol/L|<1000|N|||F|||20241211115659 OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241211115659 OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241211115659 OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|µmol/L|<230|N|||F|||20241211115659 OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241211115659 OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|µmol/L|<175|N|||F|||20241211115659 OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241211115659 OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|µmol/L|<680|N|||F|||20241211115659 OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|µmol/L|<6.1|N|||F|||20241211115659 OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|µmol/L|6.3-100|N|||F|||20241211115659 OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|µmol/L|5-49|N|||F|||20241211115659 OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241211115659 OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|µmol/L|<800|N|||F|||20241211115659 OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241211115659 OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|µmol/L|<63|N|||F|||20241211115659 OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241211115659 OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|µmol/L|<1500|N|||F|||20241211115659 OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|6|7341237093^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|7|7341237093^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|33|µmol/L|6.4-125|N|||F|||20241211115659 OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241211115659 OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|µmol/L|10-80|N|||F|||20241211115659 OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241211115659 OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|µmol/L|<0.95|N|||F|||20241211115659 OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|µmol/L|<0.45|N|||F|||20241211115659 OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241211115659 OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|µmol/L|<0.65|N|||F|||20241211115659 OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|µmol/L|<0.65|N|||F|||20241211115659 OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|µmol/L|<0.45|N|||F|||20241211115659 OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|µmol/L|<2|N|||F|||20241211115659 OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|µmol/L||N|||F|||20241211115659 OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|µmol/L|<1.2|N|||F|||20241211115659 OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|µmol/L|<0.9|N|||F|||20241211115659 OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241211115659 OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|µmol/L||N|||F|||20241211115659 OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|µmol/L|<0.2|N|||F|||20241211115659 OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|µmol/L|<12|N|||F|||20241211115659 OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|µmol/L|<1.4|N|||F|||20241211115659 OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241211115659 OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241211115659 OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|µmol/L|<3.5|N|||F|||20241211115659 OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|µmol/L|<7|N|||F|||20241211115659 OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|µmol/L||N|||F|||20241211115659 OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241211115659 OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241211115659 OBR|8|7341237093^FormNumber||57085-3^Organic acid newborn screen panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|µmol/L|<7.9|N|||F|||20241211115659 OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241211115659 OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|µmol/L|<0.48|N|||F|||20241211115659 OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|µmol/L|<1.7|N|||F|||20241211115659 OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|µmol/L|<0.95|N|||F|||20241211115659 OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241211115659 OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|µmol/L|<0.5|N|||F|||20241211115659 OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|µmol/L|<1.15|N|||F|||20241211115659 OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|µmol/L|<0.38|N|||F|||20241211115659 OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241211115659 OBR|9|7341237093^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241211115659 OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|10|7341237093^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<85|N|||F|||20241211115659 OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|11|7341237093^FormNumber||54090-6^Thyroid newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241211115659 OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|12|7341237093^FormNumber||54079-9^Galactosemia newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|48.00|enzyme units|>50|L|||F|||20241211115659 OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241211115659 OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241211115659 OBR|13|7341237093^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241211115659 OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.µThese results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241211115659 OBR|14|7341237093^FormNumber||57087-9^Biotinidase newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241211115659 OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|15|7341237093^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/µL|>18|N|||F|||20241211115659 OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|16|7341237093^FormNumber||63414-7^Pompe Disease newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|µmol/L/h|>=18.2|N|||F|||20241211115659 OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|17|7341237093^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|µmol/L/h|>=18.2|N|||F|||20241211115659 OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|18|7341237093^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241211115659 OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241211115659 OBR|19|7341237093^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|µmol/L/h|>=2.06|N|||F|||20241211115659 OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|20|7341237093^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241211115659 OBR|21|7341237093^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|µmol/L|<=3|N|||F|||20241211115659 OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|µmol/L||N|||F|||20241211115659 OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20241211115659 OBR|22|7341237093^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241211115659 OBR|23|7341237093^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202409300941|||||||||^HUBBARD^EUSTRATIA||||||20241211115659|||F OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|µmol/L|<0.47|N|||F|||20241211115659 diff --git a/examples/Test/Automated/GoldenCopy/Input/010_CA_ORU_R01_CDPH_UCSD_MRN_80015980_pre_TI_TC006.hl7 b/examples/Test/Automated/GoldenCopy/Input/010_CA_ORU_R01_CDPH_UCSD_MRN_80015980_pre_TI_TC006.hl7 index 2d0eddb65..472f9604a 100644 --- a/examples/Test/Automated/GoldenCopy/Input/010_CA_ORU_R01_CDPH_UCSD_MRN_80015980_pre_TI_TC006.hl7 +++ b/examples/Test/Automated/GoldenCopy/Input/010_CA_ORU_R01_CDPH_UCSD_MRN_80015980_pre_TI_TC006.hl7 @@ -1 +1 @@ -MSH|^~\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241211110818||ORU^R01^ORU_R01|010|N|2.5.1 PID|1||80015980^^^&NPI^MR||HIPPO^BOY A ALLIE^^^^^B||202412091336|M||2106-3^White||||||||||||2186-5^Not Hispanic or Latino||Y|1 NK1|1|HIPPO^ALLIE|MTH^Mother|518 BIG BEN WAY^^OCEANSIDE^CA^92058^USA|^^^^^442^2885325|||||||||||19941209 ORC|RE|7302692465^FormNumber||189728187^HospOrdNumber||||||||1427255868^JOHNSON^KATHRYN^^^^^^^^^^NPI|||||||||UC SAN DIEGO MEDICAL CENTER^^^^^^^^^R508|W 025TS HT71 , C #^^SAN DIEGO^CA^99999-9999 OBR|1|7302692465^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBR|2|7302692465^FormNumber||57128-1^Newborn Screening Report summary panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241211110818 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241211110818 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241211110818 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA12533-8^CAH^LN|||N|||F|||20241211110818 OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241211110818 OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\CAH: An immediate referral to a CCS endocrine center or pediatric endocrinologist, for evaluation and additional testing, is strongly recommended. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Screen for CAH based on 17-OH P level and a steroid ratio level. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241211110818 OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241211110818 OBR|3|7302692465^FormNumber||57717-1^Newborn screen card data panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241211110818 OBX|2|NM|8339-4^Birthweight^LN|1|2722|grams||N|||F|||20241211110818 OBX|3|TM|57715-5^Time of birth^LN|1|1336|||N|||F|||20241211110818 OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241211110818 OBX|5|NM|73806-2^Newborn age in hours^LN|1|24|hour(s)||N|||F|||20241211110818 OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241211110818 OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241211110818 OBX|8|TX|^^^99717-5^Accession Number^L|1|346-10-795/21-2024-21|||N|||F|||20241211110818 OBX|9|TX|62324-9^Post-discharge provider name^LN|1|MARVIN ZAGULI|||N|||F|||20241211110818 OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|W 025TS HT71 , C # SAN DIEGO CA 99999-9999 USA|||N|||F|||20241211110818 OBR|4|7302692465^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBR|5|7302692465^FormNumber||53261-4^Amino acid newborn screen panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241211110818 OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|�mol/L|<1000|N|||F|||20241211110818 OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|�mol/L||N|||F|||20241211110818 OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241211110818 OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|�mol/L|<230|N|||F|||20241211110818 OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241211110818 OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|�mol/L|<175|N|||F|||20241211110818 OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241211110818 OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|�mol/L|<680|N|||F|||20241211110818 OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|�mol/L|<6.1|N|||F|||20241211110818 OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|�mol/L|6.3-100|N|||F|||20241211110818 OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|�mol/L|5-49|N|||F|||20241211110818 OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241211110818 OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|�mol/L|<800|N|||F|||20241211110818 OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241211110818 OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|�mol/L|<63|N|||F|||20241211110818 OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241211110818 OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|�mol/L|<1500|N|||F|||20241211110818 OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|6|7302692465^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|7|7302692465^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|33|�mol/L|6.4-125|N|||F|||20241211110818 OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241211110818 OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|�mol/L|10-80|N|||F|||20241211110818 OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241211110818 OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|�mol/L|<0.95|N|||F|||20241211110818 OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|�mol/L|<0.45|N|||F|||20241211110818 OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241211110818 OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|�mol/L|<0.65|N|||F|||20241211110818 OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|�mol/L|<0.65|N|||F|||20241211110818 OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|�mol/L|<0.45|N|||F|||20241211110818 OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|�mol/L|<2|N|||F|||20241211110818 OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|�mol/L||N|||F|||20241211110818 OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|�mol/L|<1.2|N|||F|||20241211110818 OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|�mol/L|<0.9|N|||F|||20241211110818 OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241211110818 OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|�mol/L||N|||F|||20241211110818 OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|�mol/L|<0.2|N|||F|||20241211110818 OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|�mol/L|<12|N|||F|||20241211110818 OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|�mol/L|<1.4|N|||F|||20241211110818 OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241211110818 OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241211110818 OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|�mol/L|<3.5|N|||F|||20241211110818 OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|�mol/L|<7|N|||F|||20241211110818 OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|�mol/L||N|||F|||20241211110818 OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241211110818 OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|�mol/L|<0.1|N|||F|||20241211110818 OBR|8|7302692465^FormNumber||57085-3^Organic acid newborn screen panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|�mol/L|<7.9|N|||F|||20241211110818 OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241211110818 OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|�mol/L|<0.48|N|||F|||20241211110818 OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|�mol/L|<1.7|N|||F|||20241211110818 OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|�mol/L|<0.95|N|||F|||20241211110818 OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241211110818 OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|�mol/L|<0.5|N|||F|||20241211110818 OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|�mol/L|<1.15|N|||F|||20241211110818 OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|�mol/L|<0.38|N|||F|||20241211110818 OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241211110818 OBR|9|7302692465^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241211110818 OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|10|7302692465^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|0065.88|nmol/L|<85|N|||F|||20241211110818 OBX|2|NM|^^^99717-6^17-Hydroxyprogesterone (CAH II)^L|1|39|nmol/L|<38|H|||F|||20241211110818 OBX|3|NM|53343-0^Androstenedione^LN|1|40.15|nmol/L||N|||F|||20241211110818 OBX|4|NM|53345-5^Cortisol^LN|1|85|nmol/L||N|||F|||20241211110818 OBX|5|NM|53336-4^17-Hydroxyprogesterone+Androstenedione/Cortisol^LN|1|0.93|{Ratio}|<1|N|||F|||20241211110818 OBX|6|NM|53341-4^21-Deoxycortisol [Mass/volume] in Dried blood spot^LN|1|90.9|nmol/L|<5|H|||F|||20241211110818 OBX|7|NM|53347-1^11-Deoxycorticosterone [Mass/volume] in Dried blood spot^LN|1|590|nmol/L|<240|H|||F|||20241211110818 OBX|8|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241211110818 OBX|9|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241211110818 OBR|11|7302692465^FormNumber||54090-6^Thyroid newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241211110818 OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|12|7302692465^FormNumber||54079-9^Galactosemia newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|55.00|enzyme units|>50|N|||F|||20241211110818 OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|13|7302692465^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241211110818 OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.�These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241211110818 OBR|14|7302692465^FormNumber||57087-9^Biotinidase newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241211110818 OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|15|7302692465^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/�L|>18|N|||F|||20241211110818 OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|16|7302692465^FormNumber||63414-7^Pompe Disease newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|�mol/L/h|>=18.2|N|||F|||20241211110818 OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|17|7302692465^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|�mol/L/h|>=18.2|N|||F|||20241211110818 OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|18|7302692465^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241211110818 OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241211110818 OBR|19|7302692465^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|�mol/L/h|>=2.06|N|||F|||20241211110818 OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|20|7302692465^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|21|7302692465^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|�mol/L|<=3|N|||F|||20241211110818 OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|�mol/L||N|||F|||20241211110818 OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20241211110818 OBR|22|7302692465^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241211110818 OBR|23|7302692465^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|�mol/L|<0.47|N|||F|||20241211110818 +MSH|^~\&|GOLDEN-COPY|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^automated-staging-test-receiver-id^L,M,N|20241211110818||ORU^R01^ORU_R01|010|N|2.5.1 PID|1||80015980^^^&NPI^MR||HIPPO^BOY A ALLIE^^^^^B||202412091336|M||2106-3^White||||||||||||2186-5^Not Hispanic or Latino||Y|1 NK1|1|HIPPO^ALLIE|MTH^Mother|518 BIG BEN WAY^^OCEANSIDE^CA^92058^USA|^^^^^442^2885325|||||||||||19941209 ORC|RE|7302692465^FormNumber||189728187^HospOrdNumber||||||||1427255868^JOHNSON^KATHRYN^^^^^^^^^^NPI|||||||||UC SAN DIEGO MEDICAL CENTER^^^^^^^^^R508|W 025TS HT71 , C #^^SAN DIEGO^CA^99999-9999 OBR|1|7302692465^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBR|2|7302692465^FormNumber||57128-1^Newborn Screening Report summary panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241211110818 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241211110818 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241211110818 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA12533-8^CAH^LN|||N|||F|||20241211110818 OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241211110818 OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\CAH: An immediate referral to a CCS endocrine center or pediatric endocrinologist, for evaluation and additional testing, is strongly recommended. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Screen for CAH based on 17-OH P level and a steroid ratio level. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241211110818 OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241211110818 OBR|3|7302692465^FormNumber||57717-1^Newborn screen card data panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241211110818 OBX|2|NM|8339-4^Birthweight^LN|1|2722|grams||N|||F|||20241211110818 OBX|3|TM|57715-5^Time of birth^LN|1|1336|||N|||F|||20241211110818 OBX|4|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241211110818 OBX|5|NM|73806-2^Newborn age in hours^LN|1|24|hour(s)||N|||F|||20241211110818 OBX|6|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241211110818 OBX|7|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241211110818 OBX|8|TX|^^^99717-5^Accession Number^L|1|346-10-795/21-2024-21|||N|||F|||20241211110818 OBX|9|TX|62324-9^Post-discharge provider name^LN|1|MARVIN ZAGULI|||N|||F|||20241211110818 OBX|10|TX|62327-2^Post-discharge provider practice address^LN|1|W 025TS HT71 , C # SAN DIEGO CA 99999-9999 USA|||N|||F|||20241211110818 OBR|4|7302692465^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBR|5|7302692465^FormNumber||53261-4^Amino acid newborn screen panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241211110818 OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|µmol/L|<1000|N|||F|||20241211110818 OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241211110818 OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241211110818 OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|µmol/L|<230|N|||F|||20241211110818 OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241211110818 OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|µmol/L|<175|N|||F|||20241211110818 OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241211110818 OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|µmol/L|<680|N|||F|||20241211110818 OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|µmol/L|<6.1|N|||F|||20241211110818 OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|µmol/L|6.3-100|N|||F|||20241211110818 OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|µmol/L|5-49|N|||F|||20241211110818 OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241211110818 OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|µmol/L|<800|N|||F|||20241211110818 OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241211110818 OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|µmol/L|<63|N|||F|||20241211110818 OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241211110818 OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|µmol/L|<1500|N|||F|||20241211110818 OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|6|7302692465^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|7|7302692465^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|33|µmol/L|6.4-125|N|||F|||20241211110818 OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241211110818 OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|µmol/L|10-80|N|||F|||20241211110818 OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241211110818 OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|µmol/L|<0.95|N|||F|||20241211110818 OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|µmol/L|<0.45|N|||F|||20241211110818 OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241211110818 OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|µmol/L|<0.65|N|||F|||20241211110818 OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|µmol/L|<0.65|N|||F|||20241211110818 OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|µmol/L|<0.45|N|||F|||20241211110818 OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|µmol/L|<2|N|||F|||20241211110818 OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|µmol/L||N|||F|||20241211110818 OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|µmol/L|<1.2|N|||F|||20241211110818 OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|µmol/L|<0.9|N|||F|||20241211110818 OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241211110818 OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|µmol/L||N|||F|||20241211110818 OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|µmol/L|<0.2|N|||F|||20241211110818 OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|µmol/L|<12|N|||F|||20241211110818 OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|µmol/L|<1.4|N|||F|||20241211110818 OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241211110818 OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241211110818 OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|µmol/L|<3.5|N|||F|||20241211110818 OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|µmol/L|<7|N|||F|||20241211110818 OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|µmol/L||N|||F|||20241211110818 OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241211110818 OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241211110818 OBR|8|7302692465^FormNumber||57085-3^Organic acid newborn screen panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|µmol/L|<7.9|N|||F|||20241211110818 OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241211110818 OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|µmol/L|<0.48|N|||F|||20241211110818 OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|µmol/L|<1.7|N|||F|||20241211110818 OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|µmol/L|<0.95|N|||F|||20241211110818 OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241211110818 OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|µmol/L|<0.5|N|||F|||20241211110818 OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|µmol/L|<1.15|N|||F|||20241211110818 OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|µmol/L|<0.38|N|||F|||20241211110818 OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241211110818 OBR|9|7302692465^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241211110818 OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|10|7302692465^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|0065.88|nmol/L|<85|N|||F|||20241211110818 OBX|2|NM|^^^99717-6^17-Hydroxyprogesterone (CAH II)^L|1|39|nmol/L|<38|H|||F|||20241211110818 OBX|3|NM|53343-0^Androstenedione^LN|1|40.15|nmol/L||N|||F|||20241211110818 OBX|4|NM|53345-5^Cortisol^LN|1|85|nmol/L||N|||F|||20241211110818 OBX|5|NM|53336-4^17-Hydroxyprogesterone+Androstenedione/Cortisol^LN|1|0.93|{Ratio}|<1|N|||F|||20241211110818 OBX|6|NM|53341-4^21-Deoxycortisol [Mass/volume] in Dried blood spot^LN|1|90.9|nmol/L|<5|H|||F|||20241211110818 OBX|7|NM|53347-1^11-Deoxycorticosterone [Mass/volume] in Dried blood spot^LN|1|590|nmol/L|<240|H|||F|||20241211110818 OBX|8|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241211110818 OBX|9|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241211110818 OBR|11|7302692465^FormNumber||54090-6^Thyroid newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241211110818 OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|12|7302692465^FormNumber||54079-9^Galactosemia newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|55.00|enzyme units|>50|N|||F|||20241211110818 OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|13|7302692465^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241211110818 OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.µThese results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241211110818 OBR|14|7302692465^FormNumber||57087-9^Biotinidase newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241211110818 OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|15|7302692465^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/µL|>18|N|||F|||20241211110818 OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|16|7302692465^FormNumber||63414-7^Pompe Disease newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|µmol/L/h|>=18.2|N|||F|||20241211110818 OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|17|7302692465^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|µmol/L/h|>=18.2|N|||F|||20241211110818 OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|18|7302692465^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241211110818 OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241211110818 OBR|19|7302692465^FormNumber||104188-8^Mucopolysaccharidosis type II newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|µmol/L/h|>=2.06|N|||F|||20241211110818 OBX|2|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|3|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|20|7302692465^FormNumber||104191-2^Guanidinoacetate methyltransferase newborn screening panel|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|2|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241211110818 OBR|21|7302692465^FormNumber||^^^99717-52^Guanidinoacetate methyltransferase Tier-1 newborn screening panel^L|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|µmol/L|<=3|N|||F|||20241211110818 OBX|2|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|µmol/L||N|||F|||20241211110818 OBX|3|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20241211110818 OBR|22|7302692465^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241211110818 OBR|23|7302692465^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202412101409|||||||||^JOHNSON^KATHRYN||||||20241211110818|||F OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|µmol/L|<0.47|N|||F|||20241211110818 From 870cfdb4a75f1203a84c9329e0339c183661aa3a Mon Sep 17 00:00:00 2001 From: James Herr Date: Fri, 27 Dec 2024 11:27:24 -0600 Subject: [PATCH 56/61] Updated readme with env variable steps Co-Authored-By: Bella L. Quintero <96704946+pluckyswan@users.noreply.github.com> Co-Authored-By: Jeremy Rosenfeld <10262289+JeremyIR@users.noreply.github.com> Co-Authored-By: Basilio Bogado <541149+basiliskus@users.noreply.github.com> --- .../{ => Assertion}/011_ORM_R01_nte_segment_mapping.hl7 | 0 examples/Test/Automated/GoldenCopy/README.md | 5 +++++ generate_env.sh | 3 ++- 3 files changed, 7 insertions(+), 1 deletion(-) rename examples/Test/Automated/{ => Assertion}/011_ORM_R01_nte_segment_mapping.hl7 (100%) diff --git a/examples/Test/Automated/011_ORM_R01_nte_segment_mapping.hl7 b/examples/Test/Automated/Assertion/011_ORM_R01_nte_segment_mapping.hl7 similarity index 100% rename from examples/Test/Automated/011_ORM_R01_nte_segment_mapping.hl7 rename to examples/Test/Automated/Assertion/011_ORM_R01_nte_segment_mapping.hl7 diff --git a/examples/Test/Automated/GoldenCopy/README.md b/examples/Test/Automated/GoldenCopy/README.md index b6ea68a26..afbb225af 100644 --- a/examples/Test/Automated/GoldenCopy/README.md +++ b/examples/Test/Automated/GoldenCopy/README.md @@ -17,3 +17,8 @@ The files are required to: - We format `MSH-10` based on the file index, like `001` (or `AUTOMATEDTEST-001` for UCSD) - `MSH-11` needs to have a value of `N` - `MSH-3` needs to be `GOLDEN-COPY` + +Setup Environment Variable: +- In generate_env.sh: + - Change `LOCAL_FILE_PATH` to actual /Input path + - Run generate_env.sh diff --git a/generate_env.sh b/generate_env.sh index eb06adac8..648a08a61 100755 --- a/generate_env.sh +++ b/generate_env.sh @@ -14,7 +14,8 @@ DB_PORT=5433 # if you run TI via docker: DB_PORT=5432 DB_NAME=intermediary DB_USER=intermediary DB_PASS=changeIT! -DB_SSL=require" +DB_SSL=require +LOCAL_FILE_PATH=~/trusted-intermediary/examples/Test/Automated/Assertion" # Get directory of script file script_dir="$(dirname "$0")" From 4412f6ea2e8211592f0aabea74a2175c4d276317 Mon Sep 17 00:00:00 2001 From: James Herr Date: Fri, 27 Dec 2024 11:27:44 -0600 Subject: [PATCH 57/61] Added pull_request to the workflow Co-Authored-By: Bella L. Quintero <96704946+pluckyswan@users.noreply.github.com> Co-Authored-By: Jeremy Rosenfeld <10262289+JeremyIR@users.noreply.github.com> Co-Authored-By: Basilio Bogado <541149+basiliskus@users.noreply.github.com> --- .github/workflows/golden-copy-staging-test-run.yml | 1 + 1 file changed, 1 insertion(+) diff --git a/.github/workflows/golden-copy-staging-test-run.yml b/.github/workflows/golden-copy-staging-test-run.yml index c1f079196..934215027 100644 --- a/.github/workflows/golden-copy-staging-test-run.yml +++ b/.github/workflows/golden-copy-staging-test-run.yml @@ -1,6 +1,7 @@ name: Golden Copy Staging Test - Run integration tests on: + pull_request: schedule: - cron: "10 7 * * 2-6" # Tuesday to Saturday at 2am EST (7:10am UTC) - two hours after `automated-staging-test-submit` runs workflow_dispatch: From 59f0c1ad24f78f769c68c7a73dde48f324d9be23 Mon Sep 17 00:00:00 2001 From: James Herr Date: Fri, 27 Dec 2024 11:39:09 -0600 Subject: [PATCH 58/61] Temp testing Co-Authored-By: Bella L. Quintero <96704946+pluckyswan@users.noreply.github.com> Co-Authored-By: Jeremy Rosenfeld <10262289+JeremyIR@users.noreply.github.com> Co-Authored-By: Basilio Bogado <541149+basiliskus@users.noreply.github.com> --- .../001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004.hl7 | 0 .../002_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002B.hl7 | 0 .../003_CA_ORU_R01_CDPH_UCSD_189671588_pre_TI_TC001.hl7 | 0 .../004_CA_ORU_R01_CDPH_UCSD_189700664_pre_TI_TC000.hl7 | 0 .../005_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002C.hl7 | 0 .../006_CA_ORU_R01_CDPH_UCSD_189716938_pre_TI_TC002A.hl7 | 0 .../007_CA_ORU_R01_CDPH_UCSD_189717091_80015955_pre_TI_TC007A.hl7 | 0 .../008_CA_ORU_R01_CDPH_UCSD_MRN_80015955_pre_TI_TC007B.hl7 | 0 ...9_CA_ORU_R01_CDPH_UCSD_MRN_80009320_pre_TI_TC001_Corrected.hl7 | 0 .../010_CA_ORU_R01_CDPH_UCSD_MRN_80015980_pre_TI_TC006.hl7 | 0 .../011_CA_ORU_R01_CDPH_UCSD_MRN_80015981_pre_TI_TC008.hl7 | 0 .../001_Staging_ORM_O01_short_linked_to_002_ORU.hl7 | 0 .../002_Staging_ORU_O01_short_linked_to_001_ORM.hl7 | 0 .../Assertion => temp}/003_CA_ORU_R01_CDPH_produced.hl7 | 0 .../Assertion => temp}/004_CA_ORU_R01_leading_zeroes.hl7 | 0 .../Assertion => temp}/005_CA_ORU_R01_no_leading_zeroes.hl7 | 0 .../Test/{Automated/Assertion => temp}/006_CA_ORU_R01_LOINC.hl7 | 0 .../Test/{Automated/Assertion => temp}/007_CA_ORU_R01_PLT.hl7 | 0 .../Assertion => temp}/008_ORU_R01_micro_character_encoding.hl7 | 0 .../Assertion => temp}/009_CA_ORU_R01_remove_99717-5_OBX.hl7 | 0 .../010_LA_ORU_R01_NBS_0_initial_obr_flatten_example_1.hl7 | 0 .../Assertion => temp}/011_ORM_R01_nte_segment_mapping.hl7 | 0 22 files changed, 0 insertions(+), 0 deletions(-) rename examples/Test/Automated/{GoldenCopy/Input => Assertion}/001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004.hl7 (100%) rename examples/Test/Automated/{GoldenCopy/Input => Assertion}/002_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002B.hl7 (100%) rename examples/Test/Automated/{GoldenCopy/Input => Assertion}/003_CA_ORU_R01_CDPH_UCSD_189671588_pre_TI_TC001.hl7 (100%) rename examples/Test/Automated/{GoldenCopy/Input => Assertion}/004_CA_ORU_R01_CDPH_UCSD_189700664_pre_TI_TC000.hl7 (100%) rename examples/Test/Automated/{GoldenCopy/Input => Assertion}/005_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002C.hl7 (100%) rename examples/Test/Automated/{GoldenCopy/Input => Assertion}/006_CA_ORU_R01_CDPH_UCSD_189716938_pre_TI_TC002A.hl7 (100%) rename examples/Test/Automated/{GoldenCopy/Input => Assertion}/007_CA_ORU_R01_CDPH_UCSD_189717091_80015955_pre_TI_TC007A.hl7 (100%) rename examples/Test/Automated/{GoldenCopy/Input => Assertion}/008_CA_ORU_R01_CDPH_UCSD_MRN_80015955_pre_TI_TC007B.hl7 (100%) rename examples/Test/Automated/{GoldenCopy/Input => Assertion}/009_CA_ORU_R01_CDPH_UCSD_MRN_80009320_pre_TI_TC001_Corrected.hl7 (100%) rename examples/Test/Automated/{GoldenCopy/Input => Assertion}/010_CA_ORU_R01_CDPH_UCSD_MRN_80015980_pre_TI_TC006.hl7 (100%) rename examples/Test/Automated/{GoldenCopy/Input => Assertion}/011_CA_ORU_R01_CDPH_UCSD_MRN_80015981_pre_TI_TC008.hl7 (100%) rename examples/Test/{Automated/Assertion => temp}/001_Staging_ORM_O01_short_linked_to_002_ORU.hl7 (100%) rename examples/Test/{Automated/Assertion => temp}/002_Staging_ORU_O01_short_linked_to_001_ORM.hl7 (100%) rename examples/Test/{Automated/Assertion => temp}/003_CA_ORU_R01_CDPH_produced.hl7 (100%) rename examples/Test/{Automated/Assertion => temp}/004_CA_ORU_R01_leading_zeroes.hl7 (100%) rename examples/Test/{Automated/Assertion => temp}/005_CA_ORU_R01_no_leading_zeroes.hl7 (100%) rename examples/Test/{Automated/Assertion => temp}/006_CA_ORU_R01_LOINC.hl7 (100%) rename examples/Test/{Automated/Assertion => temp}/007_CA_ORU_R01_PLT.hl7 (100%) rename examples/Test/{Automated/Assertion => temp}/008_ORU_R01_micro_character_encoding.hl7 (100%) rename examples/Test/{Automated/Assertion => temp}/009_CA_ORU_R01_remove_99717-5_OBX.hl7 (100%) rename examples/Test/{Automated/Assertion => temp}/010_LA_ORU_R01_NBS_0_initial_obr_flatten_example_1.hl7 (100%) rename examples/Test/{Automated/Assertion => temp}/011_ORM_R01_nte_segment_mapping.hl7 (100%) diff --git a/examples/Test/Automated/GoldenCopy/Input/001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004.hl7 b/examples/Test/Automated/Assertion/001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004.hl7 similarity index 100% rename from examples/Test/Automated/GoldenCopy/Input/001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004.hl7 rename to examples/Test/Automated/Assertion/001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004.hl7 diff --git a/examples/Test/Automated/GoldenCopy/Input/002_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002B.hl7 b/examples/Test/Automated/Assertion/002_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002B.hl7 similarity index 100% rename from examples/Test/Automated/GoldenCopy/Input/002_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002B.hl7 rename to examples/Test/Automated/Assertion/002_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002B.hl7 diff --git a/examples/Test/Automated/GoldenCopy/Input/003_CA_ORU_R01_CDPH_UCSD_189671588_pre_TI_TC001.hl7 b/examples/Test/Automated/Assertion/003_CA_ORU_R01_CDPH_UCSD_189671588_pre_TI_TC001.hl7 similarity index 100% rename from examples/Test/Automated/GoldenCopy/Input/003_CA_ORU_R01_CDPH_UCSD_189671588_pre_TI_TC001.hl7 rename to examples/Test/Automated/Assertion/003_CA_ORU_R01_CDPH_UCSD_189671588_pre_TI_TC001.hl7 diff --git a/examples/Test/Automated/GoldenCopy/Input/004_CA_ORU_R01_CDPH_UCSD_189700664_pre_TI_TC000.hl7 b/examples/Test/Automated/Assertion/004_CA_ORU_R01_CDPH_UCSD_189700664_pre_TI_TC000.hl7 similarity index 100% rename from examples/Test/Automated/GoldenCopy/Input/004_CA_ORU_R01_CDPH_UCSD_189700664_pre_TI_TC000.hl7 rename to examples/Test/Automated/Assertion/004_CA_ORU_R01_CDPH_UCSD_189700664_pre_TI_TC000.hl7 diff --git a/examples/Test/Automated/GoldenCopy/Input/005_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002C.hl7 b/examples/Test/Automated/Assertion/005_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002C.hl7 similarity index 100% rename from examples/Test/Automated/GoldenCopy/Input/005_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002C.hl7 rename to examples/Test/Automated/Assertion/005_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002C.hl7 diff --git a/examples/Test/Automated/GoldenCopy/Input/006_CA_ORU_R01_CDPH_UCSD_189716938_pre_TI_TC002A.hl7 b/examples/Test/Automated/Assertion/006_CA_ORU_R01_CDPH_UCSD_189716938_pre_TI_TC002A.hl7 similarity index 100% rename from examples/Test/Automated/GoldenCopy/Input/006_CA_ORU_R01_CDPH_UCSD_189716938_pre_TI_TC002A.hl7 rename to examples/Test/Automated/Assertion/006_CA_ORU_R01_CDPH_UCSD_189716938_pre_TI_TC002A.hl7 diff --git a/examples/Test/Automated/GoldenCopy/Input/007_CA_ORU_R01_CDPH_UCSD_189717091_80015955_pre_TI_TC007A.hl7 b/examples/Test/Automated/Assertion/007_CA_ORU_R01_CDPH_UCSD_189717091_80015955_pre_TI_TC007A.hl7 similarity index 100% rename from examples/Test/Automated/GoldenCopy/Input/007_CA_ORU_R01_CDPH_UCSD_189717091_80015955_pre_TI_TC007A.hl7 rename to examples/Test/Automated/Assertion/007_CA_ORU_R01_CDPH_UCSD_189717091_80015955_pre_TI_TC007A.hl7 diff --git a/examples/Test/Automated/GoldenCopy/Input/008_CA_ORU_R01_CDPH_UCSD_MRN_80015955_pre_TI_TC007B.hl7 b/examples/Test/Automated/Assertion/008_CA_ORU_R01_CDPH_UCSD_MRN_80015955_pre_TI_TC007B.hl7 similarity index 100% rename from examples/Test/Automated/GoldenCopy/Input/008_CA_ORU_R01_CDPH_UCSD_MRN_80015955_pre_TI_TC007B.hl7 rename to examples/Test/Automated/Assertion/008_CA_ORU_R01_CDPH_UCSD_MRN_80015955_pre_TI_TC007B.hl7 diff --git a/examples/Test/Automated/GoldenCopy/Input/009_CA_ORU_R01_CDPH_UCSD_MRN_80009320_pre_TI_TC001_Corrected.hl7 b/examples/Test/Automated/Assertion/009_CA_ORU_R01_CDPH_UCSD_MRN_80009320_pre_TI_TC001_Corrected.hl7 similarity index 100% rename from examples/Test/Automated/GoldenCopy/Input/009_CA_ORU_R01_CDPH_UCSD_MRN_80009320_pre_TI_TC001_Corrected.hl7 rename to examples/Test/Automated/Assertion/009_CA_ORU_R01_CDPH_UCSD_MRN_80009320_pre_TI_TC001_Corrected.hl7 diff --git a/examples/Test/Automated/GoldenCopy/Input/010_CA_ORU_R01_CDPH_UCSD_MRN_80015980_pre_TI_TC006.hl7 b/examples/Test/Automated/Assertion/010_CA_ORU_R01_CDPH_UCSD_MRN_80015980_pre_TI_TC006.hl7 similarity index 100% rename from examples/Test/Automated/GoldenCopy/Input/010_CA_ORU_R01_CDPH_UCSD_MRN_80015980_pre_TI_TC006.hl7 rename to examples/Test/Automated/Assertion/010_CA_ORU_R01_CDPH_UCSD_MRN_80015980_pre_TI_TC006.hl7 diff --git a/examples/Test/Automated/GoldenCopy/Input/011_CA_ORU_R01_CDPH_UCSD_MRN_80015981_pre_TI_TC008.hl7 b/examples/Test/Automated/Assertion/011_CA_ORU_R01_CDPH_UCSD_MRN_80015981_pre_TI_TC008.hl7 similarity index 100% rename from examples/Test/Automated/GoldenCopy/Input/011_CA_ORU_R01_CDPH_UCSD_MRN_80015981_pre_TI_TC008.hl7 rename to examples/Test/Automated/Assertion/011_CA_ORU_R01_CDPH_UCSD_MRN_80015981_pre_TI_TC008.hl7 diff --git a/examples/Test/Automated/Assertion/001_Staging_ORM_O01_short_linked_to_002_ORU.hl7 b/examples/Test/temp/001_Staging_ORM_O01_short_linked_to_002_ORU.hl7 similarity index 100% rename from examples/Test/Automated/Assertion/001_Staging_ORM_O01_short_linked_to_002_ORU.hl7 rename to examples/Test/temp/001_Staging_ORM_O01_short_linked_to_002_ORU.hl7 diff --git a/examples/Test/Automated/Assertion/002_Staging_ORU_O01_short_linked_to_001_ORM.hl7 b/examples/Test/temp/002_Staging_ORU_O01_short_linked_to_001_ORM.hl7 similarity index 100% rename from examples/Test/Automated/Assertion/002_Staging_ORU_O01_short_linked_to_001_ORM.hl7 rename to examples/Test/temp/002_Staging_ORU_O01_short_linked_to_001_ORM.hl7 diff --git a/examples/Test/Automated/Assertion/003_CA_ORU_R01_CDPH_produced.hl7 b/examples/Test/temp/003_CA_ORU_R01_CDPH_produced.hl7 similarity index 100% rename from examples/Test/Automated/Assertion/003_CA_ORU_R01_CDPH_produced.hl7 rename to examples/Test/temp/003_CA_ORU_R01_CDPH_produced.hl7 diff --git a/examples/Test/Automated/Assertion/004_CA_ORU_R01_leading_zeroes.hl7 b/examples/Test/temp/004_CA_ORU_R01_leading_zeroes.hl7 similarity index 100% rename from examples/Test/Automated/Assertion/004_CA_ORU_R01_leading_zeroes.hl7 rename to examples/Test/temp/004_CA_ORU_R01_leading_zeroes.hl7 diff --git a/examples/Test/Automated/Assertion/005_CA_ORU_R01_no_leading_zeroes.hl7 b/examples/Test/temp/005_CA_ORU_R01_no_leading_zeroes.hl7 similarity index 100% rename from examples/Test/Automated/Assertion/005_CA_ORU_R01_no_leading_zeroes.hl7 rename to examples/Test/temp/005_CA_ORU_R01_no_leading_zeroes.hl7 diff --git a/examples/Test/Automated/Assertion/006_CA_ORU_R01_LOINC.hl7 b/examples/Test/temp/006_CA_ORU_R01_LOINC.hl7 similarity index 100% rename from examples/Test/Automated/Assertion/006_CA_ORU_R01_LOINC.hl7 rename to examples/Test/temp/006_CA_ORU_R01_LOINC.hl7 diff --git a/examples/Test/Automated/Assertion/007_CA_ORU_R01_PLT.hl7 b/examples/Test/temp/007_CA_ORU_R01_PLT.hl7 similarity index 100% rename from examples/Test/Automated/Assertion/007_CA_ORU_R01_PLT.hl7 rename to examples/Test/temp/007_CA_ORU_R01_PLT.hl7 diff --git a/examples/Test/Automated/Assertion/008_ORU_R01_micro_character_encoding.hl7 b/examples/Test/temp/008_ORU_R01_micro_character_encoding.hl7 similarity index 100% rename from examples/Test/Automated/Assertion/008_ORU_R01_micro_character_encoding.hl7 rename to examples/Test/temp/008_ORU_R01_micro_character_encoding.hl7 diff --git a/examples/Test/Automated/Assertion/009_CA_ORU_R01_remove_99717-5_OBX.hl7 b/examples/Test/temp/009_CA_ORU_R01_remove_99717-5_OBX.hl7 similarity index 100% rename from examples/Test/Automated/Assertion/009_CA_ORU_R01_remove_99717-5_OBX.hl7 rename to examples/Test/temp/009_CA_ORU_R01_remove_99717-5_OBX.hl7 diff --git a/examples/Test/Automated/Assertion/010_LA_ORU_R01_NBS_0_initial_obr_flatten_example_1.hl7 b/examples/Test/temp/010_LA_ORU_R01_NBS_0_initial_obr_flatten_example_1.hl7 similarity index 100% rename from examples/Test/Automated/Assertion/010_LA_ORU_R01_NBS_0_initial_obr_flatten_example_1.hl7 rename to examples/Test/temp/010_LA_ORU_R01_NBS_0_initial_obr_flatten_example_1.hl7 diff --git a/examples/Test/Automated/Assertion/011_ORM_R01_nte_segment_mapping.hl7 b/examples/Test/temp/011_ORM_R01_nte_segment_mapping.hl7 similarity index 100% rename from examples/Test/Automated/Assertion/011_ORM_R01_nte_segment_mapping.hl7 rename to examples/Test/temp/011_ORM_R01_nte_segment_mapping.hl7 From 8e9b06905fdf262728a00d1e5878b5ec28203056 Mon Sep 17 00:00:00 2001 From: James Herr Date: Fri, 27 Dec 2024 12:45:44 -0600 Subject: [PATCH 59/61] Added expected files for testing Co-Authored-By: Bella L. Quintero <96704946+pluckyswan@users.noreply.github.com> Co-Authored-By: Luis Pabon <2624105+luis-pabon-tf@users.noreply.github.com> Co-Authored-By: Jeremy Rosenfeld <10262289+JeremyIR@users.noreply.github.com> Co-Authored-By: Basilio Bogado <541149+basiliskus@users.noreply.github.com> --- .../Assertion}/001_Staging_ORM_O01_short_linked_to_002_ORU.hl7 | 0 .../Assertion}/002_Staging_ORU_O01_short_linked_to_001_ORM.hl7 | 0 .../Assertion}/003_CA_ORU_R01_CDPH_produced.hl7 | 0 .../Assertion}/004_CA_ORU_R01_leading_zeroes.hl7 | 0 .../Assertion}/005_CA_ORU_R01_no_leading_zeroes.hl7 | 0 .../Test/{temp => Automated/Assertion}/006_CA_ORU_R01_LOINC.hl7 | 0 .../Test/{temp => Automated/Assertion}/007_CA_ORU_R01_PLT.hl7 | 0 .../Assertion}/008_ORU_R01_micro_character_encoding.hl7 | 0 .../Assertion}/009_CA_ORU_R01_remove_99717-5_OBX.hl7 | 0 .../010_LA_ORU_R01_NBS_0_initial_obr_flatten_example_1.hl7 | 0 .../Assertion}/011_ORM_R01_nte_segment_mapping.hl7 | 0 .../001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004.hl7 | 1 + .../002_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002B.hl7 | 1 + .../Expected/003_CA_ORU_R01_CDPH_UCSD_189671588_pre_TI_TC001.hl7 | 1 + .../Expected/004_CA_ORU_R01_CDPH_UCSD_189700664_pre_TI_TC000.hl7 | 1 + .../005_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002C.hl7 | 1 + .../006_CA_ORU_R01_CDPH_UCSD_189716938_pre_TI_TC002A.hl7 | 1 + ...007_CA_ORU_R01_CDPH_UCSD_189717091_80015955_pre_TI_TC007A.hl7 | 1 + .../008_CA_ORU_R01_CDPH_UCSD_MRN_80015955_pre_TI_TC007B.hl7 | 1 + ..._CA_ORU_R01_CDPH_UCSD_MRN_80009320_pre_TI_TC001_Corrected.hl7 | 1 + .../010_CA_ORU_R01_CDPH_UCSD_MRN_80015980_pre_TI_TC006.hl7 | 1 + .../011_CA_ORU_R01_CDPH_UCSD_MRN_80015981_pre_TI_TC008.hl7 | 1 + .../Input}/001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004.hl7 | 0 .../Input}/002_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002B.hl7 | 0 .../Input}/003_CA_ORU_R01_CDPH_UCSD_189671588_pre_TI_TC001.hl7 | 0 .../Input}/004_CA_ORU_R01_CDPH_UCSD_189700664_pre_TI_TC000.hl7 | 0 .../Input}/005_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002C.hl7 | 0 .../Input}/006_CA_ORU_R01_CDPH_UCSD_189716938_pre_TI_TC002A.hl7 | 0 ...007_CA_ORU_R01_CDPH_UCSD_189717091_80015955_pre_TI_TC007A.hl7 | 0 .../008_CA_ORU_R01_CDPH_UCSD_MRN_80015955_pre_TI_TC007B.hl7 | 0 ..._CA_ORU_R01_CDPH_UCSD_MRN_80009320_pre_TI_TC001_Corrected.hl7 | 0 .../010_CA_ORU_R01_CDPH_UCSD_MRN_80015980_pre_TI_TC006.hl7 | 0 .../011_CA_ORU_R01_CDPH_UCSD_MRN_80015981_pre_TI_TC008.hl7 | 0 33 files changed, 11 insertions(+) rename examples/Test/{temp => Automated/Assertion}/001_Staging_ORM_O01_short_linked_to_002_ORU.hl7 (100%) rename examples/Test/{temp => Automated/Assertion}/002_Staging_ORU_O01_short_linked_to_001_ORM.hl7 (100%) rename examples/Test/{temp => Automated/Assertion}/003_CA_ORU_R01_CDPH_produced.hl7 (100%) rename examples/Test/{temp => Automated/Assertion}/004_CA_ORU_R01_leading_zeroes.hl7 (100%) rename examples/Test/{temp => Automated/Assertion}/005_CA_ORU_R01_no_leading_zeroes.hl7 (100%) rename examples/Test/{temp => Automated/Assertion}/006_CA_ORU_R01_LOINC.hl7 (100%) rename examples/Test/{temp => Automated/Assertion}/007_CA_ORU_R01_PLT.hl7 (100%) rename examples/Test/{temp => Automated/Assertion}/008_ORU_R01_micro_character_encoding.hl7 (100%) rename examples/Test/{temp => Automated/Assertion}/009_CA_ORU_R01_remove_99717-5_OBX.hl7 (100%) rename examples/Test/{temp => Automated/Assertion}/010_LA_ORU_R01_NBS_0_initial_obr_flatten_example_1.hl7 (100%) rename examples/Test/{temp => Automated/Assertion}/011_ORM_R01_nte_segment_mapping.hl7 (100%) create mode 100644 examples/Test/Automated/GoldenCopy/Expected/001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004.hl7 create mode 100644 examples/Test/Automated/GoldenCopy/Expected/002_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002B.hl7 create mode 100644 examples/Test/Automated/GoldenCopy/Expected/003_CA_ORU_R01_CDPH_UCSD_189671588_pre_TI_TC001.hl7 create mode 100644 examples/Test/Automated/GoldenCopy/Expected/004_CA_ORU_R01_CDPH_UCSD_189700664_pre_TI_TC000.hl7 create mode 100644 examples/Test/Automated/GoldenCopy/Expected/005_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002C.hl7 create mode 100644 examples/Test/Automated/GoldenCopy/Expected/006_CA_ORU_R01_CDPH_UCSD_189716938_pre_TI_TC002A.hl7 create mode 100644 examples/Test/Automated/GoldenCopy/Expected/007_CA_ORU_R01_CDPH_UCSD_189717091_80015955_pre_TI_TC007A.hl7 create mode 100644 examples/Test/Automated/GoldenCopy/Expected/008_CA_ORU_R01_CDPH_UCSD_MRN_80015955_pre_TI_TC007B.hl7 create mode 100644 examples/Test/Automated/GoldenCopy/Expected/009_CA_ORU_R01_CDPH_UCSD_MRN_80009320_pre_TI_TC001_Corrected.hl7 create mode 100644 examples/Test/Automated/GoldenCopy/Expected/010_CA_ORU_R01_CDPH_UCSD_MRN_80015980_pre_TI_TC006.hl7 create mode 100644 examples/Test/Automated/GoldenCopy/Expected/011_CA_ORU_R01_CDPH_UCSD_MRN_80015981_pre_TI_TC008.hl7 rename examples/Test/Automated/{Assertion => GoldenCopy/Input}/001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004.hl7 (100%) rename examples/Test/Automated/{Assertion => GoldenCopy/Input}/002_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002B.hl7 (100%) rename examples/Test/Automated/{Assertion => GoldenCopy/Input}/003_CA_ORU_R01_CDPH_UCSD_189671588_pre_TI_TC001.hl7 (100%) rename examples/Test/Automated/{Assertion => GoldenCopy/Input}/004_CA_ORU_R01_CDPH_UCSD_189700664_pre_TI_TC000.hl7 (100%) rename examples/Test/Automated/{Assertion => GoldenCopy/Input}/005_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002C.hl7 (100%) rename examples/Test/Automated/{Assertion => GoldenCopy/Input}/006_CA_ORU_R01_CDPH_UCSD_189716938_pre_TI_TC002A.hl7 (100%) rename examples/Test/Automated/{Assertion => GoldenCopy/Input}/007_CA_ORU_R01_CDPH_UCSD_189717091_80015955_pre_TI_TC007A.hl7 (100%) rename examples/Test/Automated/{Assertion => GoldenCopy/Input}/008_CA_ORU_R01_CDPH_UCSD_MRN_80015955_pre_TI_TC007B.hl7 (100%) rename examples/Test/Automated/{Assertion => GoldenCopy/Input}/009_CA_ORU_R01_CDPH_UCSD_MRN_80009320_pre_TI_TC001_Corrected.hl7 (100%) rename examples/Test/Automated/{Assertion => GoldenCopy/Input}/010_CA_ORU_R01_CDPH_UCSD_MRN_80015980_pre_TI_TC006.hl7 (100%) rename examples/Test/Automated/{Assertion => GoldenCopy/Input}/011_CA_ORU_R01_CDPH_UCSD_MRN_80015981_pre_TI_TC008.hl7 (100%) diff --git a/examples/Test/temp/001_Staging_ORM_O01_short_linked_to_002_ORU.hl7 b/examples/Test/Automated/Assertion/001_Staging_ORM_O01_short_linked_to_002_ORU.hl7 similarity index 100% rename from examples/Test/temp/001_Staging_ORM_O01_short_linked_to_002_ORU.hl7 rename to examples/Test/Automated/Assertion/001_Staging_ORM_O01_short_linked_to_002_ORU.hl7 diff --git a/examples/Test/temp/002_Staging_ORU_O01_short_linked_to_001_ORM.hl7 b/examples/Test/Automated/Assertion/002_Staging_ORU_O01_short_linked_to_001_ORM.hl7 similarity index 100% rename from examples/Test/temp/002_Staging_ORU_O01_short_linked_to_001_ORM.hl7 rename to examples/Test/Automated/Assertion/002_Staging_ORU_O01_short_linked_to_001_ORM.hl7 diff --git a/examples/Test/temp/003_CA_ORU_R01_CDPH_produced.hl7 b/examples/Test/Automated/Assertion/003_CA_ORU_R01_CDPH_produced.hl7 similarity index 100% rename from examples/Test/temp/003_CA_ORU_R01_CDPH_produced.hl7 rename to examples/Test/Automated/Assertion/003_CA_ORU_R01_CDPH_produced.hl7 diff --git a/examples/Test/temp/004_CA_ORU_R01_leading_zeroes.hl7 b/examples/Test/Automated/Assertion/004_CA_ORU_R01_leading_zeroes.hl7 similarity index 100% rename from examples/Test/temp/004_CA_ORU_R01_leading_zeroes.hl7 rename to examples/Test/Automated/Assertion/004_CA_ORU_R01_leading_zeroes.hl7 diff --git a/examples/Test/temp/005_CA_ORU_R01_no_leading_zeroes.hl7 b/examples/Test/Automated/Assertion/005_CA_ORU_R01_no_leading_zeroes.hl7 similarity index 100% rename from examples/Test/temp/005_CA_ORU_R01_no_leading_zeroes.hl7 rename to examples/Test/Automated/Assertion/005_CA_ORU_R01_no_leading_zeroes.hl7 diff --git a/examples/Test/temp/006_CA_ORU_R01_LOINC.hl7 b/examples/Test/Automated/Assertion/006_CA_ORU_R01_LOINC.hl7 similarity index 100% rename from examples/Test/temp/006_CA_ORU_R01_LOINC.hl7 rename to examples/Test/Automated/Assertion/006_CA_ORU_R01_LOINC.hl7 diff --git a/examples/Test/temp/007_CA_ORU_R01_PLT.hl7 b/examples/Test/Automated/Assertion/007_CA_ORU_R01_PLT.hl7 similarity index 100% rename from examples/Test/temp/007_CA_ORU_R01_PLT.hl7 rename to examples/Test/Automated/Assertion/007_CA_ORU_R01_PLT.hl7 diff --git a/examples/Test/temp/008_ORU_R01_micro_character_encoding.hl7 b/examples/Test/Automated/Assertion/008_ORU_R01_micro_character_encoding.hl7 similarity index 100% rename from examples/Test/temp/008_ORU_R01_micro_character_encoding.hl7 rename to examples/Test/Automated/Assertion/008_ORU_R01_micro_character_encoding.hl7 diff --git a/examples/Test/temp/009_CA_ORU_R01_remove_99717-5_OBX.hl7 b/examples/Test/Automated/Assertion/009_CA_ORU_R01_remove_99717-5_OBX.hl7 similarity index 100% rename from examples/Test/temp/009_CA_ORU_R01_remove_99717-5_OBX.hl7 rename to examples/Test/Automated/Assertion/009_CA_ORU_R01_remove_99717-5_OBX.hl7 diff --git a/examples/Test/temp/010_LA_ORU_R01_NBS_0_initial_obr_flatten_example_1.hl7 b/examples/Test/Automated/Assertion/010_LA_ORU_R01_NBS_0_initial_obr_flatten_example_1.hl7 similarity index 100% rename from examples/Test/temp/010_LA_ORU_R01_NBS_0_initial_obr_flatten_example_1.hl7 rename to examples/Test/Automated/Assertion/010_LA_ORU_R01_NBS_0_initial_obr_flatten_example_1.hl7 diff --git a/examples/Test/temp/011_ORM_R01_nte_segment_mapping.hl7 b/examples/Test/Automated/Assertion/011_ORM_R01_nte_segment_mapping.hl7 similarity index 100% rename from examples/Test/temp/011_ORM_R01_nte_segment_mapping.hl7 rename to examples/Test/Automated/Assertion/011_ORM_R01_nte_segment_mapping.hl7 diff --git a/examples/Test/Automated/GoldenCopy/Expected/001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004.hl7 b/examples/Test/Automated/GoldenCopy/Expected/001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004.hl7 new file mode 100644 index 000000000..050386ea7 --- /dev/null +++ b/examples/Test/Automated/GoldenCopy/Expected/001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004.hl7 @@ -0,0 +1 @@ +MSH|^~\&|GOLDEN-COPY|CDPH|EPIC|R797|20241015054631||ORU^R01|001|N|2.5.1 PID|1||80015867||CDPHTWO^GIRL MOMTWO||202410071025|F||2076-8^Native Hawaiian or Other Pacific Islander||||||||||||2186-5^Not Hispanic or Latino||N|1 NK1|1|CDPHTWO^MOMTWO|MTH^Mother|2 SECOND ST^^SAN DIEGO^CA^92121^USA||||||||||||20000202 ORC|RE|189688314^HospOrdNumber||7371237714^FormNumber||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|189688314^HospOrdNumber||54089-8^NB Screen Panel Patient AHIC^CDPHGSPEAP|||202410081133|||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI||||||20241015054631|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12427-3^Subsequent screen - for clarification of initial results (not by law or protocol)^LN|||N|||F|||20241015054631 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241015054631 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241015054631 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA12543-7^GALT^LN|||N|||F|||20241015054631 OBX|5|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|2|LA12533-8^CAH^LN|||N|||F|||20241015054631 OBX|6|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA12566-8^SCID^LN|||N|||F|||20241015054631 OBX|7|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|2|LA14037-8^GAA^LN|||N|||F|||20241015054631 OBX|8|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\CAH: An immediate referral to a CCS endocrine center or pediatric endocrinologist, for evaluation and additional testing, is strongly recommended. \.br\\.br\Pompe: Another dried blood specimen MUST be collected for this child. Call your Newborn Screening Coordinator for assistance. \.br\\.br\SCID: Another dried blood specimen MUST be collected for this child. Call your Newborn Screening Coordinator for assistance. \.br\\.br\Galactosemia: Additional testing is required to rule out disorder.µCall your Newborn Screening Coordinator for assistance. \.br\\.br\ATTENTION: THIS CHILD HAS TESTED POSITIVE FOR MORE THAN ONE TEST. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241015054631 OBX|9|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241015054631 OBX|10|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241015054631 OBX|11|NM|8339-4^Birthweight^LN|1|3175|grams||N|||F|||20241015054631 OBX|12|TM|57715-5^Time of birth^LN|1|1025|||N|||F|||20241015054631 OBX|13|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241015054631 OBX|14|NM|73806-2^Newborn age in hours^LN|1|25|hour(s)||N|||F|||20241015054631 OBX|15|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241015054631 OBX|16|CE|67704-7^Feeding types^LN|1|LA4489-6^Unknown^LN|||N|||F|||20241015054631 OBX|17|TX|62324-9^Post-discharge provider name^LN|1|DENISE COYLE|||N|||F|||20241015054631 OBX|18|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241015054631 OBX|19|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241015054631 OBX|20|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|µmol/L|<1000|N|||F|||20241015054631 OBX|21|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241015054631 OBX|22|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241015054631 OBX|23|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|µmol/L|<230|N|||F|||20241015054631 OBX|24|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241015054631 OBX|25|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|µmol/L|<175|N|||F|||20241015054631 OBX|26|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241015054631 OBX|27|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|µmol/L|<680|N|||F|||20241015054631 OBX|28|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|µmol/L|<6.1|N|||F|||20241015054631 OBX|29|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|µmol/L|6.3-100|N|||F|||20241015054631 OBX|30|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|µmol/L|5-49|N|||F|||20241015054631 OBX|31|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241015054631 OBX|32|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|µmol/L|<800|N|||F|||20241015054631 OBX|33|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241015054631 OBX|34|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|µmol/L|<63|N|||F|||20241015054631 OBX|35|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241015054631 OBX|36|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|µmol/L|<1500|N|||F|||20241015054631 OBX|37|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|38|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|39|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|40|NM|38481-8^Carnitine.free (C0)^LN|1|33|µmol/L|6.4-125|N|||F|||20241015054631 OBX|41|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241015054631 OBX|42|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|µmol/L|10-80|N|||F|||20241015054631 OBX|43|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241015054631 OBX|44|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|µmol/L|<0.95|N|||F|||20241015054631 OBX|45|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|µmol/L|<0.45|N|||F|||20241015054631 OBX|46|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241015054631 OBX|47|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|µmol/L|<0.65|N|||F|||20241015054631 OBX|48|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|µmol/L|<0.65|N|||F|||20241015054631 OBX|49|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|µmol/L|<0.45|N|||F|||20241015054631 OBX|50|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|µmol/L|<2|N|||F|||20241015054631 OBX|51|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|µmol/L||N|||F|||20241015054631 OBX|52|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|µmol/L|<1.2|N|||F|||20241015054631 OBX|53|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|µmol/L|<0.9|N|||F|||20241015054631 OBX|54|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241015054631 OBX|55|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|µmol/L||N|||F|||20241015054631 OBX|56|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|µmol/L|<0.2|N|||F|||20241015054631 OBX|57|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|µmol/L|<12|N|||F|||20241015054631 OBX|58|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|µmol/L|<1.4|N|||F|||20241015054631 OBX|59|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241015054631 OBX|60|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241015054631 OBX|61|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|µmol/L|<3.5|N|||F|||20241015054631 OBX|62|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|µmol/L|<7|N|||F|||20241015054631 OBX|63|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|µmol/L||N|||F|||20241015054631 OBX|64|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241015054631 OBX|65|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241015054631 OBX|66|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|µmol/L|<7.9|N|||F|||20241015054631 OBX|67|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241015054631 OBX|68|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|µmol/L|<0.48|N|||F|||20241015054631 OBX|69|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|µmol/L|<1.7|N|||F|||20241015054631 OBX|70|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|µmol/L|<0.95|N|||F|||20241015054631 OBX|71|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241015054631 OBX|72|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|µmol/L|<0.5|N|||F|||20241015054631 OBX|73|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|µmol/L|<1.15|N|||F|||20241015054631 OBX|74|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|µmol/L|<0.38|N|||F|||20241015054631 OBX|75|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241015054631 OBX|76|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241015054631 OBX|77|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|78|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|79|NM|38473-5^17-Hydroxyprogesterone^LN|1|305|nmol/L|<85|H|||F|||20241015054631 OBX|80|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241015054631 OBX|81|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241015054631 OBX|82|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241015054631 OBX|83|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|84|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|85|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|48.00|enzyme units|>50|L|||F|||20241015054631 OBX|86|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241015054631 OBX|87|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241015054631 OBX|88|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241015054631 OBX|89|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.µThese results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241015054631 OBX|90|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241015054631 OBX|91|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|92|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|93|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|2|copies/µL|>18|L|||F|||20241015054631 OBX|94|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA11884-6^Indeterminate^LN|||A|||F|||20241015054631 OBX|95|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Incomplete|||A|||F|||20241015054631 OBX|96|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA16205-9^Specimen unsatisfactory for at least one condition^LN|||A|||F|||20241015054631 OBX|97|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Incomplete|||A|||F|||20241015054631 OBX|98|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|µmol/L/h|>=18.2|N|||F|||20241015054631 OBX|99|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|100|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|101|TX|PLT3293^SMN1 exon 7 deletion analysis in DBS by Sequencing^PLT^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241015054631 OBX|102|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|103|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241015054631 OBX|104|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|µmol/L/h|>=2.06|N|||F|||20241015054631 OBX|105|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|106|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|107|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|108|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|109|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|µmol/L|<=3|N|||F|||20241015054631 OBX|110|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|µmol/L||N|||F|||20241015054631 OBX|111|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20241015054631 OBX|112|CE|85269-9^X-linked Adrenoleukodystrophy (X- ALD) newborn screen interpretation^LN^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|113|TX|85268-1^X-linked Adrenoleukodystrophy (X- ALD) newborn screening comment-discussion^LN^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241015054631 OBX|114|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|µmol/L|<0.47|N|||F|||20241015054631 diff --git a/examples/Test/Automated/GoldenCopy/Expected/002_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002B.hl7 b/examples/Test/Automated/GoldenCopy/Expected/002_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002B.hl7 new file mode 100644 index 000000000..9cde52098 --- /dev/null +++ b/examples/Test/Automated/GoldenCopy/Expected/002_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002B.hl7 @@ -0,0 +1 @@ +MSH|^~\&|GOLDEN-COPY|CDPH|EPIC|R797|20241022024155||ORU^R01|002|N|2.5.1 PID|1||80015887||CDPHTHREE^BOY B MOMTHREE|||M||2131-1^Other Race||||||||||||UNK^Unknown||Y|2 NK1|1|CDPHTHREE^MOMTHREE|MTH^Mother|3 3RD ST^^SAN DIEGO^CA^92126^USA|^^^^^858^2490007|||||||||||20031007 ORC|RE|189693889^HospOrdNumber||7381238055^FormNumber||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|189693889^HospOrdNumber||54089-8^NB Screen Panel Patient AHIC^CDPHGSPEAP|||202410161630|||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI||||||20241022024155|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241022024155 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241022024155 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241022024155 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA16207-5^Hemoglobinopathies^LN|||N|||F|||20241022024155 OBX|5|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|2|LA12537-9^CF^LN|||N|||F|||20241022024155 OBX|6|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241022024155 OBX|7|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\Amino Acid Panel: There was insufficient data to determine whether or not this newborn was at least 12 hours old when this specimen was collected. Testing of amino acids at less than 12 hours of age is not reliable for detecting certain metabolic disorder. \.br\\.br\Hb: An immediate referral to a CCS Sickle Cell Disease/Hemoglobinopathies Center is strongly recommended. \.br\\.br\Cystic Fibrosis (CF): An immediate referral to a CCS approved Cystic Fibrosis Center for evaluation and additional testing is strongly recommended. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Screen for CF based on IRT and the California CFTR DNA mutation panel which consists of the following mutations: 1078delT, 1288insTA, 1677delTA, 1717-1G>A, 1812-1G>A, 1898+1G>A, 1898+5G>T, 2055del9>A, 2105-2117del13insAGAAA, 2143delT, 2183AA>G, 2184delA, 2307insA, 2789+5G>A, 2869insG, 3120+1G>A, 3120G>A, 3199del6, 3272-26A>G, 3659delC, 3791delC, 3849+10kbC>T, 3876delA, 3905insT, 394delTT, 405+3A>C, 406-1G>A, 444delA, 621+1G>T, 663delT, 711+1G>T, 935delA, A455E, A559T, CFTRdel2,3(21kb), delF311, delF508, delI507, E60X, G178R, G330X, G542X, G551D, G85E, H199Y, K710X, L206W, M1101K, N1303K, P205S, Q493X, Q890X, Q98R, R1066C, R1158X, R1162X, R117C, R334W, R347H, R347P, R352Q, R553X, R560T, R75X, S1196X, S1255X, S492F, S549N, S549R(T>G), V520F, W1089X, W1204X(3743G>A), W1204X(3744G>A), W1282X, Y1092X(C>A), Y1092X(C>G), Y122X. California CFTR Mutation Panel was run at Stanford Health Care, Molecular Pathology Laboratory, 3375 Hillview Avenue, Palo Alto, CA 94304. Directors: James Zehnder, MD; Christian Kunder, MD, PhD; Carlos J. Suarez, MD; (650) 723-6574. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241022024155 OBX|8|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241022024155 OBX|9|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241022024155 OBX|10|NM|8339-4^Birthweight^LN|1|2948|grams||N|||F|||20241022024155 OBX|11|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12412-5^Twins^LN|||N|||F|||20241022024155 OBX|12|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241022024155 OBX|13|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241022024155 OBX|14|TX|62324-9^Post-discharge provider name^LN|1|MICHELLE LEFF|||N|||F|||20241022024155 OBX|15|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241022024155 OBX|16|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241022024155 OBX|17|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|µmol/L|<1000|N|||F|||20241022024155 OBX|18|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241022024155 OBX|19|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241022024155 OBX|20|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|µmol/L|<230|N|||F|||20241022024155 OBX|21|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241022024155 OBX|22|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|µmol/L|<175|N|||F|||20241022024155 OBX|23|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241022024155 OBX|24|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|µmol/L|<680|N|||F|||20241022024155 OBX|25|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|µmol/L|<6.1|N|||F|||20241022024155 OBX|26|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|µmol/L|6.3-100|N|||F|||20241022024155 OBX|27|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|µmol/L|5-49|N|||F|||20241022024155 OBX|28|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241022024155 OBX|29|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|µmol/L|<800|N|||F|||20241022024155 OBX|30|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241022024155 OBX|31|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|µmol/L|<63|N|||F|||20241022024155 OBX|32|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241022024155 OBX|33|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|µmol/L|<1500|N|||F|||20241022024155 OBX|34|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Collected Early. No Interpretation.|||A|||F|||20241022024155 OBX|35|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|36|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241022024155 OBX|37|NM|38481-8^Carnitine.free (C0)^LN|1|33|µmol/L|6.4-125|N|||F|||20241022024155 OBX|38|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241022024155 OBX|39|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|µmol/L|10-80|N|||F|||20241022024155 OBX|40|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241022024155 OBX|41|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|µmol/L|<0.95|N|||F|||20241022024155 OBX|42|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|µmol/L|<0.45|N|||F|||20241022024155 OBX|43|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241022024155 OBX|44|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|µmol/L|<0.65|N|||F|||20241022024155 OBX|45|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|µmol/L|<0.65|N|||F|||20241022024155 OBX|46|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|µmol/L|<0.45|N|||F|||20241022024155 OBX|47|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|µmol/L|<2|N|||F|||20241022024155 OBX|48|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|µmol/L||N|||F|||20241022024155 OBX|49|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|µmol/L|<1.2|N|||F|||20241022024155 OBX|50|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|µmol/L|<0.9|N|||F|||20241022024155 OBX|51|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241022024155 OBX|52|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|µmol/L||N|||F|||20241022024155 OBX|53|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|µmol/L|<0.2|N|||F|||20241022024155 OBX|54|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|µmol/L|<12|N|||F|||20241022024155 OBX|55|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|µmol/L|<1.4|N|||F|||20241022024155 OBX|56|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241022024155 OBX|57|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241022024155 OBX|58|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|µmol/L|<3.5|N|||F|||20241022024155 OBX|59|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|µmol/L|<7|N|||F|||20241022024155 OBX|60|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|µmol/L||N|||F|||20241022024155 OBX|61|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241022024155 OBX|62|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241022024155 OBX|63|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|µmol/L|<7.9|N|||F|||20241022024155 OBX|64|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241022024155 OBX|65|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|µmol/L|<0.48|N|||F|||20241022024155 OBX|66|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|µmol/L|<1.7|N|||F|||20241022024155 OBX|67|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|µmol/L|<0.95|N|||F|||20241022024155 OBX|68|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241022024155 OBX|69|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|µmol/L|<0.5|N|||F|||20241022024155 OBX|70|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|µmol/L|<1.15|N|||F|||20241022024155 OBX|71|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|µmol/L|<0.38|N|||F|||20241022024155 OBX|72|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241022024155 OBX|73|NM|48633-2^Trypsinogen I.free^LN|1|72.00|ng/mL|<69|H|||F|||20241022024155 OBX|74|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA11884-6^Indeterminate^LN|||A|||F|||20241022024155 OBX|75|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Consistent with Cystic Fibrosis (delF508 and delI507 mutations)|||A|||F|||20241022024155 OBX|76|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<85|N|||F|||20241022024155 OBX|77|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|78|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241022024155 OBX|79|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241022024155 OBX|80|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|81|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241022024155 OBX|82|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|55.00|enzyme units|>50|N|||F|||20241022024155 OBX|83|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|84|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241022024155 OBX|85|TX|54104-5^Hemoglobin pattern^LN|1|F||||||F|||20241022024155 OBX|86|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Consistent with Beta thalassemia major (Cooley's anemia).||||||F|||20241022024155 OBX|87|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241022024155 OBX|88|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|89|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241022024155 OBX|90|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/µL|>18|N|||F|||20241022024155 OBX|91|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|92|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241022024155 OBX|93|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|µmol/L/h|>=18.2|N|||F|||20241022024155 OBX|94|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|95|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241022024155 OBX|96|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|µmol/L/h|>=18.2|N|||F|||20241022024155 OBX|97|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|98|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241022024155 OBX|99|TX|PLT3293^SMN1 exon 7 deletion analysis in DBS by Sequencing^PLT^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241022024155 OBX|100|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|101|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241022024155 OBX|102|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|µmol/L/h|>=2.06|N|||F|||20241022024155 OBX|103|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|104|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241022024155 OBX|105|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|106|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241022024155 OBX|107|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|µmol/L|<=3|N|||F|||20241022024155 OBX|108|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|µmol/L||N|||F|||20241022024155 OBX|109|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20241022024155 OBX|110|CE|85269-9^X-linked Adrenoleukodystrophy (X- ALD) newborn screen interpretation^LN^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241022024155 OBX|111|TX|85268-1^X-linked Adrenoleukodystrophy (X- ALD) newborn screening comment-discussion^LN^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241022024155 OBX|112|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|µmol/L|<0.47|N|||F|||20241022024155 diff --git a/examples/Test/Automated/GoldenCopy/Expected/003_CA_ORU_R01_CDPH_UCSD_189671588_pre_TI_TC001.hl7 b/examples/Test/Automated/GoldenCopy/Expected/003_CA_ORU_R01_CDPH_UCSD_189671588_pre_TI_TC001.hl7 new file mode 100644 index 000000000..81044ec16 --- /dev/null +++ b/examples/Test/Automated/GoldenCopy/Expected/003_CA_ORU_R01_CDPH_UCSD_189671588_pre_TI_TC001.hl7 @@ -0,0 +1 @@ +MSH|^~\&|GOLDEN-COPY|CDPH|EPIC|R797|20240930011140||ORU^R01|003|N|2.5.1 PID|1||80009320||NEWBORNSCREEN^BOY RED||202408150826|M||1002-5^American Indian or Alaska Native||||||||||||2186-5^Not Hispanic or Latino||N|1 NK1|1|NEWBORNSCREEN^RED|MTH^Mother|9560 TOWNE CENTRE DR^^SAN DIEGO^CA^92121-1972^USA|^^^^^619^1234567|||||||||||19850426 ORC|RE|189671588^HospOrdNumber||7341237093^FormNumber||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|189671588^HospOrdNumber||54089-8^NB Screen Panel Patient AHIC^CDPHGSPEAP|||202409300941|||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI||||||20240930011140|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20240930011140 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20240930011140 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA12428-1^All screening is in range for the conditions tested^LN|||N|||F|||20240930011140 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20240930011140 OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20240930011140 OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\Acyl Carnitine Panel: Reference Ranges for acylcarnitines are based on specimens collected on newborns who are less than 10 days old. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20240930011140 OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20240930011140 OBX|8|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20240930011140 OBX|9|NM|8339-4^Birthweight^LN|1|3084|grams||N|||F|||20240930011140 OBX|10|TM|57715-5^Time of birth^LN|1|0826|||N|||F|||20240930011140 OBX|11|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20240930011140 OBX|12|NM|73806-2^Newborn age in hours^LN|1|46|day(s)||N|||F|||20240930011140 OBX|13|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20240930011140 OBX|14|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20240930011140 OBX|15|TX|62324-9^Post-discharge provider name^LN|1|MARVIN ZAGULI|||N|||F|||20240930011140 OBX|16|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20240930011140 OBX|17|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20240930011140 OBX|18|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|µmol/L|<1000|N|||F|||20240930011140 OBX|19|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20240930011140 OBX|20|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20240930011140 OBX|21|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|µmol/L|<230|N|||F|||20240930011140 OBX|22|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20240930011140 OBX|23|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|µmol/L|<175|N|||F|||20240930011140 OBX|24|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20240930011140 OBX|25|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|µmol/L|<680|N|||F|||20240930011140 OBX|26|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|µmol/L|<6.1|N|||F|||20240930011140 OBX|27|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|µmol/L|6.3-100|N|||F|||20240930011140 OBX|28|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|µmol/L|5-49|N|||F|||20240930011140 OBX|29|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20240930011140 OBX|30|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|µmol/L|<800|N|||F|||20240930011140 OBX|31|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20240930011140 OBX|32|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|µmol/L|<63|N|||F|||20240930011140 OBX|33|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20240930011140 OBX|34|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|µmol/L|<1500|N|||F|||20240930011140 OBX|35|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20240930011140 OBX|36|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|37|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20240930011140 OBX|38|NM|38481-8^Carnitine.free (C0)^LN|1|33|µmol/L|6.4-125|N|||F|||20240930011140 OBX|39|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20240930011140 OBX|40|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|µmol/L|10-80|N|||F|||20240930011140 OBX|41|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20240930011140 OBX|42|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|µmol/L|<0.95|N|||F|||20240930011140 OBX|43|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|µmol/L|<0.45|N|||F|||20240930011140 OBX|44|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20240930011140 OBX|45|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|µmol/L|<0.65|N|||F|||20240930011140 OBX|46|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|µmol/L|<0.65|N|||F|||20240930011140 OBX|47|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|µmol/L|<0.45|N|||F|||20240930011140 OBX|48|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|µmol/L|<2|N|||F|||20240930011140 OBX|49|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|µmol/L||N|||F|||20240930011140 OBX|50|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|µmol/L|<1.2|N|||F|||20240930011140 OBX|51|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|µmol/L|<0.9|N|||F|||20240930011140 OBX|52|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20240930011140 OBX|53|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|µmol/L||N|||F|||20240930011140 OBX|54|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|µmol/L|<0.2|N|||F|||20240930011140 OBX|55|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|µmol/L|<12|N|||F|||20240930011140 OBX|56|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|µmol/L|<1.4|N|||F|||20240930011140 OBX|57|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20240930011140 OBX|58|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20240930011140 OBX|59|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|µmol/L|<3.5|N|||F|||20240930011140 OBX|60|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|µmol/L|<7|N|||F|||20240930011140 OBX|61|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|µmol/L||N|||F|||20240930011140 OBX|62|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20240930011140 OBX|63|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20240930011140 OBX|64|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|µmol/L|<7.9|N|||F|||20240930011140 OBX|65|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20240930011140 OBX|66|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|µmol/L|<0.48|N|||F|||20240930011140 OBX|67|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|µmol/L|<1.7|N|||F|||20240930011140 OBX|68|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|µmol/L|<0.95|N|||F|||20240930011140 OBX|69|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20240930011140 OBX|70|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|µmol/L|<0.5|N|||F|||20240930011140 OBX|71|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|µmol/L|<1.15|N|||F|||20240930011140 OBX|72|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|µmol/L|<0.38|N|||F|||20240930011140 OBX|73|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20240930011140 OBX|74|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20240930011140 OBX|75|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|76|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20240930011140 OBX|77|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<85|N|||F|||20240930011140 OBX|78|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|79|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240930011140 OBX|80|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20240930011140 OBX|81|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|82|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240930011140 OBX|83|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|55.00|enzyme units|>50|N|||F|||20240930011140 OBX|84|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|85|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240930011140 OBX|86|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20240930011140 OBX|87|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.µThese results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20240930011140 OBX|88|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20240930011140 OBX|89|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|90|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240930011140 OBX|91|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/µL|>18|N|||F|||20240930011140 OBX|92|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|93|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240930011140 OBX|94|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|µmol/L/h|>=18.2|N|||F|||20240930011140 OBX|95|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|96|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20240930011140 OBX|97|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|µmol/L/h|>=18.2|N|||F|||20240930011140 OBX|98|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|99|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240930011140 OBX|100|TX|PLT3293^SMN1 exon 7 deletion analysis in DBS by Sequencing^PLT^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20240930011140 OBX|101|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|102|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20240930011140 OBX|103|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|µmol/L/h|>=2.06|N|||F|||20240930011140 OBX|104|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|105|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240930011140 OBX|106|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|107|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20240930011140 OBX|108|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|µmol/L|<=3|N|||F|||20240930011140 OBX|109|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|µmol/L||N|||F|||20240930011140 OBX|110|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20240930011140 OBX|111|CE|85269-9^X-linked Adrenoleukodystrophy (X- ALD) newborn screen interpretation^LN^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20240930011140 OBX|112|TX|85268-1^X-linked Adrenoleukodystrophy (X- ALD) newborn screening comment-discussion^LN^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20240930011140 OBX|113|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|µmol/L|<0.47|N|||F|||20240930011140 diff --git a/examples/Test/Automated/GoldenCopy/Expected/004_CA_ORU_R01_CDPH_UCSD_189700664_pre_TI_TC000.hl7 b/examples/Test/Automated/GoldenCopy/Expected/004_CA_ORU_R01_CDPH_UCSD_189700664_pre_TI_TC000.hl7 new file mode 100644 index 000000000..979939e86 --- /dev/null +++ b/examples/Test/Automated/GoldenCopy/Expected/004_CA_ORU_R01_CDPH_UCSD_189700664_pre_TI_TC000.hl7 @@ -0,0 +1 @@ +MSH|^~\&|GOLDEN-COPY|CDPH|EPIC|R797|20241118050532||ORU^R01|004|N|2.5.1 PID|1||80015913||CDPHRESULT^GIRL C MARY||202410241550|F||2076-8^Native Hawaiian or Other Pacific Islander||||||||||||2186-5^Not Hispanic or Latino||Y|3 NK1|1|CDPHRESULT^MARY|MTH^Mother|123 ST^^SAN DIEGO^CA^92123^USA|^^^^^858^2490014|||||||||||19981024 ORC|RE|189700664^HospOrdNumber||7312693833^FormNumber||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|189700664^HospOrdNumber||54089-8^NB Screen Panel Patient AHIC^CDPHGSPEAP|||202410251536|||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI||||||20241118050532|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241118050532 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241118050532 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA12428-1^All screening is in range for the conditions tested^LN|||N|||F|||20241118050532 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241118050532 OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241118050532 OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241118050532 OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241118050532 OBX|8|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241118050532 OBX|9|NM|8339-4^Birthweight^LN|1|2722|grams||N|||F|||20241118050532 OBX|10|TM|57715-5^Time of birth^LN|1|1550|||N|||F|||20241118050532 OBX|11|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12413-3^Triplets^LN|||N|||F|||20241118050532 OBX|12|NM|73806-2^Newborn age in hours^LN|1|23|hour(s)||N|||F|||20241118050532 OBX|13|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241118050532 OBX|14|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241118050532 OBX|15|TX|62324-9^Post-discharge provider name^LN|1|MARVIN ZAGULI|||N|||F|||20241118050532 OBX|16|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241118050532 OBX|17|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241118050532 OBX|18|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|µmol/L|<1000|N|||F|||20241118050532 OBX|19|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241118050532 OBX|20|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241118050532 OBX|21|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|µmol/L|<230|N|||F|||20241118050532 OBX|22|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241118050532 OBX|23|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|µmol/L|<175|N|||F|||20241118050532 OBX|24|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241118050532 OBX|25|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|µmol/L|<680|N|||F|||20241118050532 OBX|26|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|µmol/L|<6.1|N|||F|||20241118050532 OBX|27|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|µmol/L|6.3-100|N|||F|||20241118050532 OBX|28|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|µmol/L|5-49|N|||F|||20241118050532 OBX|29|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241118050532 OBX|30|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|µmol/L|<800|N|||F|||20241118050532 OBX|31|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241118050532 OBX|32|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|µmol/L|<63|N|||F|||20241118050532 OBX|33|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241118050532 OBX|34|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|µmol/L|<1500|N|||F|||20241118050532 OBX|35|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241118050532 OBX|36|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|37|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241118050532 OBX|38|NM|38481-8^Carnitine.free (C0)^LN|1|33|µmol/L|6.4-125|N|||F|||20241118050532 OBX|39|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241118050532 OBX|40|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|µmol/L|10-80|N|||F|||20241118050532 OBX|41|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241118050532 OBX|42|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|µmol/L|<0.95|N|||F|||20241118050532 OBX|43|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|µmol/L|<0.45|N|||F|||20241118050532 OBX|44|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241118050532 OBX|45|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|µmol/L|<0.65|N|||F|||20241118050532 OBX|46|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|µmol/L|<0.65|N|||F|||20241118050532 OBX|47|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|µmol/L|<0.45|N|||F|||20241118050532 OBX|48|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|µmol/L|<2|N|||F|||20241118050532 OBX|49|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|µmol/L||N|||F|||20241118050532 OBX|50|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|µmol/L|<1.2|N|||F|||20241118050532 OBX|51|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|µmol/L|<0.9|N|||F|||20241118050532 OBX|52|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241118050532 OBX|53|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|µmol/L||N|||F|||20241118050532 OBX|54|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|µmol/L|<0.2|N|||F|||20241118050532 OBX|55|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|µmol/L|<12|N|||F|||20241118050532 OBX|56|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|µmol/L|<1.4|N|||F|||20241118050532 OBX|57|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241118050532 OBX|58|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241118050532 OBX|59|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|µmol/L|<3.5|N|||F|||20241118050532 OBX|60|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|µmol/L|<7|N|||F|||20241118050532 OBX|61|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|µmol/L||N|||F|||20241118050532 OBX|62|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241118050532 OBX|63|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241118050532 OBX|64|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|µmol/L|<7.9|N|||F|||20241118050532 OBX|65|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241118050532 OBX|66|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|µmol/L|<0.48|N|||F|||20241118050532 OBX|67|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|µmol/L|<1.7|N|||F|||20241118050532 OBX|68|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|µmol/L|<0.95|N|||F|||20241118050532 OBX|69|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241118050532 OBX|70|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|µmol/L|<0.5|N|||F|||20241118050532 OBX|71|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|µmol/L|<1.15|N|||F|||20241118050532 OBX|72|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|µmol/L|<0.38|N|||F|||20241118050532 OBX|73|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241118050532 OBX|74|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241118050532 OBX|75|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|76|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241118050532 OBX|77|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<85|N|||F|||20241118050532 OBX|78|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|79|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118050532 OBX|80|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241118050532 OBX|81|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|82|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118050532 OBX|83|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|55.00|enzyme units|>50|N|||F|||20241118050532 OBX|84|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|85|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118050532 OBX|86|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241118050532 OBX|87|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.µThese results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241118050532 OBX|88|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241118050532 OBX|89|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|90|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118050532 OBX|91|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/µL|>18|N|||F|||20241118050532 OBX|92|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|93|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118050532 OBX|94|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|µmol/L/h|>=18.2|N|||F|||20241118050532 OBX|95|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|96|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241118050532 OBX|97|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|µmol/L/h|>=18.2|N|||F|||20241118050532 OBX|98|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|99|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118050532 OBX|100|TX|PLT3293^SMN1 exon 7 deletion analysis in DBS by Sequencing^PLT^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241118050532 OBX|101|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|102|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241118050532 OBX|103|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|µmol/L/h|>=2.06|N|||F|||20241118050532 OBX|104|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|105|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118050532 OBX|106|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|107|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241118050532 OBX|108|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|µmol/L|<=3|N|||F|||20241118050532 OBX|109|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|µmol/L||N|||F|||20241118050532 OBX|110|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|2.93||<=10|N|||F|||20241118050532 OBX|111|CE|85269-9^X-linked Adrenoleukodystrophy (X- ALD) newborn screen interpretation^LN^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241118050532 OBX|112|TX|85268-1^X-linked Adrenoleukodystrophy (X- ALD) newborn screening comment-discussion^LN^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241118050532 OBX|113|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|µmol/L|<0.47|N|||F|||20241118050532 diff --git a/examples/Test/Automated/GoldenCopy/Expected/005_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002C.hl7 b/examples/Test/Automated/GoldenCopy/Expected/005_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002C.hl7 new file mode 100644 index 000000000..7ffcdb97c --- /dev/null +++ b/examples/Test/Automated/GoldenCopy/Expected/005_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002C.hl7 @@ -0,0 +1 @@ +MSH|^~\&|GOLDEN-COPY|CDPH|EPIC|R797|20241118030201||ORU^R01|005|N|2.5.1 PID|1||80015887||CDPHTHREE^BOY B MOMTHREE||202410161318|M||2131-1^Other Race||||||||||||UNK^Unknown||Y|2 NK1|1|CDPHTHREE^MOMTHREE|MTH^Mother|3 3RD ST^^SAN DIEGO^CA^92126^USA|^^^^^858^2490007|||||||||||20031007 ORC|RE|189693889^HospOrdNumber||7381238055^FormNumber||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|189693889^HospOrdNumber||54089-8^NB Screen Panel Patient AHIC^CDPHGSPEAP|||202410161630|||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI||||||20241118030201|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241118030201 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241118030201 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241118030201 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241118030201 OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241118030201 OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\Amino Acid Panel: An immediate referral to a CCS Metabolic Center is strongly recommended. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241118030201 OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241118030201 OBX|8|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241118030201 OBX|9|NM|8339-4^Birthweight^LN|1|2948|grams||N|||F|||20241118030201 OBX|10|TM|57715-5^Time of birth^LN|1|1318|||N|||F|||20241118030201 OBX|11|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12412-5^Twins^LN|||N|||F|||20241118030201 OBX|12|NM|73806-2^Newborn age in hours^LN|1|3|hour(s)||N|||F|||20241118030201 OBX|13|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241118030201 OBX|14|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241118030201 OBX|15|TX|62324-9^Post-discharge provider name^LN|1|MICHELLE LEFF|||N|||F|||20241118030201 OBX|16|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241118030201 OBX|17|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241118030201 OBX|18|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|µmol/L|<1000|N|||F|||20241118030201 OBX|19|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241118030201 OBX|20|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241118030201 OBX|21|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|µmol/L|<230|N|||F|||20241118030201 OBX|22|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241118030201 OBX|23|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|µmol/L|<175|N|||F|||20241118030201 OBX|24|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241118030201 OBX|25|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|µmol/L|<680|N|||F|||20241118030201 OBX|26|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|µmol/L|<6.1|N|||F|||20241118030201 OBX|27|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|µmol/L|6.3-100|N|||F|||20241118030201 OBX|28|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|275|µmol/L|5-49|H|||F|||20241118030201 OBX|29|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|11|{Ratio}|<4.8|H|||F|||20241118030201 OBX|30|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|µmol/L|<800|N|||F|||20241118030201 OBX|31|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241118030201 OBX|32|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|µmol/L|<63|N|||F|||20241118030201 OBX|33|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241118030201 OBX|34|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|µmol/L|<1500|N|||F|||20241118030201 OBX|35|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|This pattern of elevations is consistent with Citrullinemia (I/II), ASAL Deficiency|||A|||F|||20241118030201 OBX|36|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|37|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241118030201 OBX|38|NM|38481-8^Carnitine.free (C0)^LN|1|33|µmol/L|6.4-125|N|||F|||20241118030201 OBX|39|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241118030201 OBX|40|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|µmol/L|10-80|N|||F|||20241118030201 OBX|41|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241118030201 OBX|42|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|µmol/L|<0.95|N|||F|||20241118030201 OBX|43|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|µmol/L|<0.45|N|||F|||20241118030201 OBX|44|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241118030201 OBX|45|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|µmol/L|<0.65|N|||F|||20241118030201 OBX|46|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|µmol/L|<0.65|N|||F|||20241118030201 OBX|47|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|µmol/L|<0.45|N|||F|||20241118030201 OBX|48|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|µmol/L|<2|N|||F|||20241118030201 OBX|49|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|µmol/L||N|||F|||20241118030201 OBX|50|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|µmol/L|<1.2|N|||F|||20241118030201 OBX|51|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|µmol/L|<0.9|N|||F|||20241118030201 OBX|52|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241118030201 OBX|53|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|µmol/L||N|||F|||20241118030201 OBX|54|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|µmol/L|<0.2|N|||F|||20241118030201 OBX|55|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|µmol/L|<12|N|||F|||20241118030201 OBX|56|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|µmol/L|<1.4|N|||F|||20241118030201 OBX|57|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241118030201 OBX|58|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241118030201 OBX|59|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|µmol/L|<3.5|N|||F|||20241118030201 OBX|60|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|µmol/L|<7|N|||F|||20241118030201 OBX|61|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|µmol/L||N|||F|||20241118030201 OBX|62|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241118030201 OBX|63|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241118030201 OBX|64|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|µmol/L|<7.9|N|||F|||20241118030201 OBX|65|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241118030201 OBX|66|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|µmol/L|<0.48|N|||F|||20241118030201 OBX|67|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|µmol/L|<1.7|N|||F|||20241118030201 OBX|68|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|µmol/L|<0.95|N|||F|||20241118030201 OBX|69|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241118030201 OBX|70|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|µmol/L|<0.5|N|||F|||20241118030201 OBX|71|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|µmol/L|<1.15|N|||F|||20241118030201 OBX|72|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|µmol/L|<0.38|N|||F|||20241118030201 OBX|73|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241118030201 OBX|74|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241118030201 OBX|75|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|76|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241118030201 OBX|77|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<85|N|||F|||20241118030201 OBX|78|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|79|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118030201 OBX|80|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241118030201 OBX|81|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|82|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118030201 OBX|83|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|55.00|enzyme units|>50|N|||F|||20241118030201 OBX|84|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|85|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118030201 OBX|86|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241118030201 OBX|87|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.µThese results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241118030201 OBX|88|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241118030201 OBX|89|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|90|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118030201 OBX|91|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/µL|>18|N|||F|||20241118030201 OBX|92|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|93|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118030201 OBX|94|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|µmol/L/h|>=18.2|N|||F|||20241118030201 OBX|95|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|96|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241118030201 OBX|97|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|µmol/L/h|>=18.2|N|||F|||20241118030201 OBX|98|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|99|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118030201 OBX|100|TX|PLT3293^SMN1 exon 7 deletion analysis in DBS by Sequencing^PLT^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241118030201 OBX|101|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|102|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241118030201 OBX|103|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|µmol/L/h|>=2.06|N|||F|||20241118030201 OBX|104|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|105|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241118030201 OBX|106|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|107|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241118030201 OBX|108|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|µmol/L|<=3|N|||F|||20241118030201 OBX|109|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|µmol/L||N|||F|||20241118030201 OBX|110|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20241118030201 OBX|111|CE|85269-9^X-linked Adrenoleukodystrophy (X- ALD) newborn screen interpretation^LN^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241118030201 OBX|112|TX|85268-1^X-linked Adrenoleukodystrophy (X- ALD) newborn screening comment-discussion^LN^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241118030201 OBX|113|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|µmol/L|<0.47|N|||F|||20241118030201 diff --git a/examples/Test/Automated/GoldenCopy/Expected/006_CA_ORU_R01_CDPH_UCSD_189716938_pre_TI_TC002A.hl7 b/examples/Test/Automated/GoldenCopy/Expected/006_CA_ORU_R01_CDPH_UCSD_189716938_pre_TI_TC002A.hl7 new file mode 100644 index 000000000..151c91a0d --- /dev/null +++ b/examples/Test/Automated/GoldenCopy/Expected/006_CA_ORU_R01_CDPH_UCSD_189716938_pre_TI_TC002A.hl7 @@ -0,0 +1 @@ +MSH|^~\&|GOLDEN-COPY|CDPH|EPIC|R797|20241203094445||ORU^R01|006|N|2.5.1 PID|1||80015959||INTERFACE^GIRL B CDPHTWO||20241118084900|F||2028-9^Asian||||||||||||2186-5^Not Hispanic or Latino||Y|2 NK1|1|INTERFACE^CDPHTWO|MTH^Mother|9877 7TH ST^^SAN DIEGO^CA^92126^USA|^^^^^619^4704213|||||||||||19961118 ORC|RE|189716938^HospOrdNumber||7872697780^FormNumber||||||||1427255868^JOHNSON^KATHRYN^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|189716938^HospOrdNumber||54089-8^NB Screen Panel Patient AHIC^CDPHGSPEAP|||202411211003|||||||||1427255868^JOHNSON^KATHRYN^^^^^^^^^^NPI||||||20241203094445|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241203094445 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241203094445 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241203094445 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|99717-3^Hypothyroidism^L|||N|||F|||20241203094445 OBX|5|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|2|LA12543-7^GALT^LN|||N|||F|||20241203094445 OBX|6|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|3|LA22279-6^SMA^LN|||N|||F|||20241203094445 OBX|7|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|4|LA30113-7^GAMT^LN|||N|||F|||20241203094445 OBX|8|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|5|LA12532-0^BIO^LN|||N|||F|||20241203094445 OBX|9|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241203094445 OBX|10|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\Biotinidase Deficiency: This screen for Biotinidase Deficiency was positive. Another specimen MUST be collected on this infant. \.br\\.br\Guanidinoacetate Methyltransferase (GAMT): An immediate referral to a CCS-approved Metabolic Center for evaluation and additional testing is strongly recommended. \.br\\.br\Spinal Muscular Atrophy (SMA): An immediate referral to a CCS-approved Neuromuscular Center for evaluation and additional testing is strongly recommended due an apparent SMN1 exon 7 homozygous deletion. \.br\\.br\Galactosemia: Additional testing is required to rule out disorder.µCall your Newborn Screening Coordinator for assistance. \.br\\.br\Primary Congenital Hypothyroidism: Additional testing in consultation with a CCS-approved Endocrine Center or Pediatric Endocrinologist is strongly recommended.µCall your Newborn Screening Coordinator for assistance. \.br\\.br\ATTENTION: THIS CHILD HAS TESTED POSITIVE FOR MORE THAN ONE TEST. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241203094445 OBX|11|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241203094445 OBX|12|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241203094445 OBX|13|NM|8339-4^Birthweight^LN|1|2495|grams||N|||F|||20241203094445 OBX|14|TM|57715-5^Time of birth^LN|1|8490|||N|||F|||20241203094445 OBX|15|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12412-5^Twins^LN|||N|||F|||20241203094445 OBX|16|NM|73806-2^Newborn age in hours^LN|1|82|hour(s)||N|||F|||20241203094445 OBX|17|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241203094445 OBX|18|CE|67704-7^Feeding types^LN|1|LA16915-3^Lactose formula^LN|||N|||F|||20241203094445 OBX|19|TX|62324-9^Post-discharge provider name^LN|1|MICHELLE LEFF|||N|||F|||20241203094445 OBX|20|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241203094445 OBX|21|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241203094445 OBX|22|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|µmol/L|<1000|N|||F|||20241203094445 OBX|23|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241203094445 OBX|24|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241203094445 OBX|25|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|µmol/L|<230|N|||F|||20241203094445 OBX|26|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241203094445 OBX|27|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|µmol/L|<175|N|||F|||20241203094445 OBX|28|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241203094445 OBX|29|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|µmol/L|<680|N|||F|||20241203094445 OBX|30|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|µmol/L|<6.1|N|||F|||20241203094445 OBX|31|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|µmol/L|6.3-100|N|||F|||20241203094445 OBX|32|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|µmol/L|5-49|N|||F|||20241203094445 OBX|33|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241203094445 OBX|34|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|µmol/L|<800|N|||F|||20241203094445 OBX|35|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241203094445 OBX|36|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|µmol/L|<63|N|||F|||20241203094445 OBX|37|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241203094445 OBX|38|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|µmol/L|<1500|N|||F|||20241203094445 OBX|39|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241203094445 OBX|40|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|41|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241203094445 OBX|42|NM|38481-8^Carnitine.free (C0)^LN|1|33|µmol/L|6.4-125|N|||F|||20241203094445 OBX|43|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241203094445 OBX|44|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|µmol/L|10-80|N|||F|||20241203094445 OBX|45|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241203094445 OBX|46|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|µmol/L|<0.95|N|||F|||20241203094445 OBX|47|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|µmol/L|<0.45|N|||F|||20241203094445 OBX|48|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241203094445 OBX|49|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|µmol/L|<0.65|N|||F|||20241203094445 OBX|50|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|µmol/L|<0.65|N|||F|||20241203094445 OBX|51|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|µmol/L|<0.45|N|||F|||20241203094445 OBX|52|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|µmol/L|<2|N|||F|||20241203094445 OBX|53|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|µmol/L||N|||F|||20241203094445 OBX|54|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|µmol/L|<1.2|N|||F|||20241203094445 OBX|55|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|µmol/L|<0.9|N|||F|||20241203094445 OBX|56|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241203094445 OBX|57|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|µmol/L||N|||F|||20241203094445 OBX|58|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|µmol/L|<0.2|N|||F|||20241203094445 OBX|59|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|µmol/L|<12|N|||F|||20241203094445 OBX|60|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|µmol/L|<1.4|N|||F|||20241203094445 OBX|61|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241203094445 OBX|62|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241203094445 OBX|63|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|µmol/L|<3.5|N|||F|||20241203094445 OBX|64|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|µmol/L|<7|N|||F|||20241203094445 OBX|65|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|µmol/L||N|||F|||20241203094445 OBX|66|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241203094445 OBX|67|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241203094445 OBX|68|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|µmol/L|<7.9|N|||F|||20241203094445 OBX|69|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241203094445 OBX|70|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|µmol/L|<0.48|N|||F|||20241203094445 OBX|71|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|µmol/L|<1.7|N|||F|||20241203094445 OBX|72|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|µmol/L|<0.95|N|||F|||20241203094445 OBX|73|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241203094445 OBX|74|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|µmol/L|<0.5|N|||F|||20241203094445 OBX|75|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|µmol/L|<1.15|N|||F|||20241203094445 OBX|76|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|µmol/L|<0.38|N|||F|||20241203094445 OBX|77|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241203094445 OBX|78|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241203094445 OBX|79|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|80|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241203094445 OBX|81|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<190|N|||F|||20241203094445 OBX|82|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|83|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241203094445 OBX|84|NM|29575-8^Thyrotropin^LN|1|34.00|mIU/L|<29|H|||F|||20241203094445 OBX|85|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241203094445 OBX|86|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241203094445 OBX|87|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|48.00|enzyme units|>50|L|||F|||20241203094445 OBX|88|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241203094445 OBX|89|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241203094445 OBX|90|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241203094445 OBX|91|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.µThese results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241203094445 OBX|92|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|8.00|ERU|>10|L|||F|||20241203094445 OBX|93|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241203094445 OBX|94|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241203094445 OBX|95|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/µL|>18|N|||F|||20241203094445 OBX|96|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|97|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241203094445 OBX|98|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|µmol/L/h|>=18.2|N|||F|||20241203094445 OBX|99|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|100|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241203094445 OBX|101|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|µmol/L/h|>=18.2|N|||F|||20241203094445 OBX|102|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|103|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241203094445 OBX|104|TX|PLT3293^SMN1 exon 7 deletion analysis in DBS by Sequencing^PLT^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Absent||Exon 7 Present|A|||F|||20241203094445 OBX|105|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241203094445 OBX|106|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Positive|||A|||F|||20241203094445 OBX|107|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|µmol/L/h|>=2.06|N|||F|||20241203094445 OBX|108|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|109|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241203094445 OBX|110|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241203094445 OBX|111|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Positive|||A|||F|||20241203094445 OBX|112|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|5.25|µmol/L/h|<=5|H|||F|||20241203094445 OBX|113|CE|85269-9^X-linked Adrenoleukodystrophy (X- ALD) newborn screen interpretation^LN^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241203094445 OBX|114|TX|85268-1^X-linked Adrenoleukodystrophy (X- ALD) newborn screening comment-discussion^LN^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241203094445 OBX|115|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|µmol/L|<0.47|N|||F|||20241203094445 diff --git a/examples/Test/Automated/GoldenCopy/Expected/007_CA_ORU_R01_CDPH_UCSD_189717091_80015955_pre_TI_TC007A.hl7 b/examples/Test/Automated/GoldenCopy/Expected/007_CA_ORU_R01_CDPH_UCSD_189717091_80015955_pre_TI_TC007A.hl7 new file mode 100644 index 000000000..61a70a2f3 --- /dev/null +++ b/examples/Test/Automated/GoldenCopy/Expected/007_CA_ORU_R01_CDPH_UCSD_189717091_80015955_pre_TI_TC007A.hl7 @@ -0,0 +1 @@ +MSH|^~\&|GOLDEN-COPY|CDPH|EPIC|R797|20241206093739||ORU^R01|007|N|2.5.1 PID|1||80015955||INTERFACE^BOY A CDPHONE||202411180830|M||2028-9^Asian||||||||||||2186-5^Not Hispanic or Latino||Y|1 NK1|1|INTERFACE^CDPHONE|MTH^Mother|456 ST^^SAN DIEGO^CA^92123^USA|^^^^^858^2490016|||||||||||19921118 ORC|RE|189717091^HospOrdNumber||7902698491^FormNumber||||||||1427255868^JOHNSON^KATHRYN^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|189717091^HospOrdNumber||54089-8^NB Screen Panel Patient AHIC^CDPHGSPEAP|||202411211015|||||||||1427255868^JOHNSON^KATHRYN^^^^^^^^^^NPI||||||20241206093739|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241206093739 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241206093739 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241206093739 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA12566-8^SCID^LN|||N|||F|||20241206093739 OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241206093739 OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\SCID: A liquid blood specimen for CBC differential and flow cytometry at Quest Diagnostics is required to rule out or confirm SCID or a related immune disorder. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241206093739 OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241206093739 OBX|8|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241206093739 OBX|9|NM|8339-4^Birthweight^LN|1|2722|grams||N|||F|||20241206093739 OBX|10|TM|57715-5^Time of birth^LN|1|0830|||N|||F|||20241206093739 OBX|11|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241206093739 OBX|12|NM|73806-2^Newborn age in hours^LN|1|73|hour(s)||N|||F|||20241206093739 OBX|13|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241206093739 OBX|14|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241206093739 OBX|15|TX|62324-9^Post-discharge provider name^LN|1|KRISHELLE MARC-AURELE|||N|||F|||20241206093739 OBX|16|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241206093739 OBX|17|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241206093739 OBX|18|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|µmol/L|<1000|N|||F|||20241206093739 OBX|19|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241206093739 OBX|20|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241206093739 OBX|21|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|µmol/L|<230|N|||F|||20241206093739 OBX|22|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241206093739 OBX|23|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|µmol/L|<175|N|||F|||20241206093739 OBX|24|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241206093739 OBX|25|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|µmol/L|<680|N|||F|||20241206093739 OBX|26|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|µmol/L|<6.1|N|||F|||20241206093739 OBX|27|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|µmol/L|6.3-100|N|||F|||20241206093739 OBX|28|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|µmol/L|5-49|N|||F|||20241206093739 OBX|29|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241206093739 OBX|30|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|µmol/L|<800|N|||F|||20241206093739 OBX|31|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241206093739 OBX|32|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|µmol/L|<63|N|||F|||20241206093739 OBX|33|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241206093739 OBX|34|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|µmol/L|<1500|N|||F|||20241206093739 OBX|35|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241206093739 OBX|36|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|37|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241206093739 OBX|38|NM|38481-8^Carnitine.free (C0)^LN|1|33|µmol/L|6.4-125|N|||F|||20241206093739 OBX|39|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241206093739 OBX|40|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|µmol/L|10-80|N|||F|||20241206093739 OBX|41|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241206093739 OBX|42|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|µmol/L|<0.95|N|||F|||20241206093739 OBX|43|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|µmol/L|<0.45|N|||F|||20241206093739 OBX|44|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241206093739 OBX|45|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|µmol/L|<0.65|N|||F|||20241206093739 OBX|46|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|µmol/L|<0.65|N|||F|||20241206093739 OBX|47|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|µmol/L|<0.45|N|||F|||20241206093739 OBX|48|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|µmol/L|<2|N|||F|||20241206093739 OBX|49|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|µmol/L||N|||F|||20241206093739 OBX|50|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|µmol/L|<1.2|N|||F|||20241206093739 OBX|51|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|µmol/L|<0.9|N|||F|||20241206093739 OBX|52|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241206093739 OBX|53|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|µmol/L||N|||F|||20241206093739 OBX|54|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|µmol/L|<0.2|N|||F|||20241206093739 OBX|55|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|µmol/L|<12|N|||F|||20241206093739 OBX|56|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|µmol/L|<1.4|N|||F|||20241206093739 OBX|57|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241206093739 OBX|58|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241206093739 OBX|59|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|µmol/L|<3.5|N|||F|||20241206093739 OBX|60|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|µmol/L|<7|N|||F|||20241206093739 OBX|61|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|µmol/L||N|||F|||20241206093739 OBX|62|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241206093739 OBX|63|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241206093739 OBX|64|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|µmol/L|<7.9|N|||F|||20241206093739 OBX|65|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241206093739 OBX|66|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|µmol/L|<0.48|N|||F|||20241206093739 OBX|67|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|µmol/L|<1.7|N|||F|||20241206093739 OBX|68|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|µmol/L|<0.95|N|||F|||20241206093739 OBX|69|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241206093739 OBX|70|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|µmol/L|<0.5|N|||F|||20241206093739 OBX|71|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|µmol/L|<1.15|N|||F|||20241206093739 OBX|72|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|µmol/L|<0.38|N|||F|||20241206093739 OBX|73|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241206093739 OBX|74|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241206093739 OBX|75|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|76|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241206093739 OBX|77|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<85|N|||F|||20241206093739 OBX|78|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|79|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241206093739 OBX|80|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241206093739 OBX|81|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|82|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241206093739 OBX|83|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|55.00|enzyme units|>50|N|||F|||20241206093739 OBX|84|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|85|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241206093739 OBX|86|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241206093739 OBX|87|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.µThese results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241206093739 OBX|88|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241206093739 OBX|89|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|90|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241206093739 OBX|91|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|2|copies/µL|>18|L|||F|||20241206093739 OBX|92|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241206093739 OBX|93|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241206093739 OBX|94|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|µmol/L/h|>=18.2|N|||F|||20241206093739 OBX|95|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|96|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241206093739 OBX|97|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|µmol/L/h|>=18.2|N|||F|||20241206093739 OBX|98|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|99|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241206093739 OBX|100|TX|PLT3293^SMN1 exon 7 deletion analysis in DBS by Sequencing^PLT^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241206093739 OBX|101|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|102|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241206093739 OBX|103|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|µmol/L/h|>=2.06|N|||F|||20241206093739 OBX|104|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|105|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241206093739 OBX|106|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|107|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241206093739 OBX|108|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|µmol/L|<=3|N|||F|||20241206093739 OBX|109|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|µmol/L||N|||F|||20241206093739 OBX|110|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20241206093739 OBX|111|CE|85269-9^X-linked Adrenoleukodystrophy (X- ALD) newborn screen interpretation^LN^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241206093739 OBX|112|TX|85268-1^X-linked Adrenoleukodystrophy (X- ALD) newborn screening comment-discussion^LN^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241206093739 OBX|113|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|µmol/L|<0.47|N|||F|||20241206093739 diff --git a/examples/Test/Automated/GoldenCopy/Expected/008_CA_ORU_R01_CDPH_UCSD_MRN_80015955_pre_TI_TC007B.hl7 b/examples/Test/Automated/GoldenCopy/Expected/008_CA_ORU_R01_CDPH_UCSD_MRN_80015955_pre_TI_TC007B.hl7 new file mode 100644 index 000000000..06cde29c6 --- /dev/null +++ b/examples/Test/Automated/GoldenCopy/Expected/008_CA_ORU_R01_CDPH_UCSD_MRN_80015955_pre_TI_TC007B.hl7 @@ -0,0 +1 @@ +MSH|^~\&|GOLDEN-COPY|CDPH|EPIC|R797|20241206093739||ORU^R01|008|N|2.5.1 PID|1||80015955||INTERFACE^BOY A CDPHONE||202411180830|M||2131-1^Other Race||||||||||||UNK^Unknown||Y|1 NK1|1|INTERFACE^CDPHONE|MTH^Mother|456 ST^^SAN DIEGO^CA^92123^USA|^^^^^858^2490016|||||||||||19921118 ORC|RE|^HospOrdNumber||7902698491^FormNumber||||||||1427255868^JOHNSON^KATHRYN^^^^^^^^^^NPI|||||||||^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|^HospOrdNumber||54089-8^NB Screen Panel Patient AHIC^CDPHGSPEAP|||202411021023|||||||202411031023||1427255868^JOHNSON^KATHRYN^^^^^^^^^^NPI||||||20241206093739|||F OBX|1|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\Testing Lab - Quest \R\ S W 0094DVLB TESNU, SAN JUAN CAPISTRANO, CA 99999-9999\.br\\.br\Lab Director - Daisydoublek Toulousep, MD,PhD, Quest, (491)154-5445\.br\\.br\SCID Reviewer - Meadowsaffronpa Maxrm\.br\\.br\Lab Remarks: CD3/CD8/CD45RO, Percent:This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics Nichols Institute San Juan Capistrano. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes. \.br\\.br\Follow-up:\.br\\.br\Clinical Reviewer Comments: Testing\.br\\.br\Follow-up Recommendation: Refer to CCS-approved Immunology Center\.br\\.br\Disclaimer:\.br\\.br\This test was developed and its performance characteristics have been determined by Quest Diagnostics Nichols Institute, San Juan Capistrano. It has not been cleared or approved by the U.S. Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. Performance characteristics refer to the analytical performance of the test. \.br\\.br\|||N|||F|||20241206093739 OBX|2|TM|57715-5^Time of birth^LN|1|0830|||N|||F|||20241206093739 OBX|3|NM|73806-2^Newborn age in hours^LN|1|73|hour(s)||N|||F|||20241206093739 OBX|4|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241206093739 OBX|5|NM|6690-2^Leukocytes [#/volume] in Blood by Automated count^LN|1|45.1|Thousand/uL|9.0-30.0|H|||F|||20241206093739 OBX|6|NM|789-8^Erythrocytes [#/volume] in Blood by Automated count^LN|1|4.25|Million/uL|3.90-5.90||||F|||20241206093739 OBX|7|NM|718-7^Hemoglobin [Mass/volume] in Blood^LN|1|18.1|g/dL|13.4-19.9||||F|||20241206093739 OBX|8|NM|4544-3^Hematocrit [Volume Fraction] of Blood by Automated count^LN|1|50.1|%|42.0-65.0||||F|||20241206093739 OBX|9|NM|787-2^Erythrocyte mean corpuscular volume [Entitic volume] by Automated count^LN|1|100.0|fL|88.0-123.0||||F|||20241206093739 OBX|10|NM|785-6^Erythrocyte mean corpuscular hemoglobin [Entitic mass] by Automated count^LN|1|35.1|pg|31.0-37.0||||F|||20241206093739 OBX|11|NM|786-4^Erythrocyte mean corpuscular hemoglobin concentration [Mass/volume] by Automated count^LN|1|30.2|g/dL|28.0-36.0||||F|||20241206093739 OBX|12|NM|777-3^Platelets [#/volume] in Blood by Automated count^LN|1|200|Thousand/uL|150-450||||F|||20241206093739 OBX|13|NM|776-5^Platelet mean volume [Entitic volume] in Blood by Rees-Ecker^LN|1|11.1|fL|7.5-12.5||||F|||20241206093739 OBX|14|NM|788-0^Erythrocyte distribution width [Ratio] by Automated count^LN|1|14.1|%|13.0-18.0||||F|||20241206093739 OBX|15|NM|751-8^Neutrophils [#/volume] in Blood by Automated count^LN|1|7000|cells/uL|5000-21000||||F|||20241206093739 OBX|16|NM|26507-4^Neutrophils.band form [#/volume] in Blood^LN^29153|1|3000|cells/uL|1500-4200||||F|||20241206093739 OBX|17|NM|30433-7^Metamyelocytes [#/volume] in Blood^LN^29154|1|1|cells/uL|0|H|||F|||20241206093739 OBX|18|NM|30446-9^Myelocytes [#/volume] in Blood^LN^29162|1|0|cells/uL|0||||F|||20241206093739 OBX|19|NM|26523-1^Promyelocytes [#/volume] in Blood^LN^29163|1|0|cells/uL|0||||F|||20241206093739 OBX|20|NM|731-0^Lymphocytes [#/volume] in Blood by Automated count^LN^29164|1|6000|cells/uL|2000-11500||||F|||20241206093739 OBX|21|NM|742-7^Monocytes [#/volume] in Blood by Automated count^LN^29165|1|1200|cells/uL|300-2400||||F|||20241206093739 OBX|22|NM|711-2^Eosinophils [#/volume] in Blood by Automated count^LN^29166|1|600|cells/uL|15-800||||F|||20241206093739 OBX|23|NM|704-7^Basophils [#/volume] in Blood by Automated count^LN^29167|1|200|cells/uL|0-300||||F|||20241206093739 OBX|24|NM|30376-8^Blasts [#/volume] in Blood^LN^29168|1|0|cells/uL|0||||F|||20241206093739 OBX|25|NM|30392-5^Nucleated erythrocytes [#/volume] in Blood^LN^29169|1|300|cells/uL|0-5000||||F|||20241206093739 OBX|26|NM|770-8^Neutrophils/100 leukocytes in Blood by Automated count^LN^29170|1|20|%|||||F|||20241206093739 OBX|27|NM|26508-2^Neutrophils.band form/100 leukocytes in Blood^LN^29171|1|2|%|||||F|||20241206093739 OBX|28|NM|28541-1^Metamyelocytes/100 leukocytes in Blood^LN^29172|1|1|%|||||F|||20241206093739 OBX|29|NM|26498-6^Myelocytes/100 leukocytes in Blood^LN^29173|1|1|%|||||F|||20241206093739 OBX|30|NM|26524-9^Promyelocytes/100 leukocytes in Blood^LN^29174|1|1|%|||||F|||20241206093739 OBX|31|NM|736-9^Lymphocytes/100 leukocytes in Blood by Automated count^LN^29175|1|1|%|||||F|||20241206093739 OBX|32|NM|13046-8^Lymphocytes Variant/100 leukocytes in Blood^LN^29176|1|1|%|0-10||||F|||20241206093739 OBX|33|NM|5905-5^Monocytes/100 leukocytes in Blood by Automated count^LN^29177|1|1|%|||||F|||20241206093739 OBX|34|NM|713-8^Eosinophils/100 leukocytes in Blood by Automated count^LN^29178|1|1|%|||||F|||20241206093739 OBX|35|NM|706-2^Basophils/100 leukocytes in Blood by Automated count^LN^29179|1|1|%|||||F|||20241206093739 OBX|36|NM|26446-5^Blasts/100 leukocytes in Blood^LN^29180|1|1|%|||||F|||20241206093739 OBX|37|NM|19048-8^Nucleated erythrocytes/100 leukocytes [Ratio] in Blood^LN^29181|1|1|/100 WBC|0|H|||F|||20241206093739 OBX|38|NM|8122-4^CD3 cells [#/volume] in Blood^LN^86007711^CD3+ T-Cells, Absolute^L|1|3000|cells/uL|2500-5500||||F|||20241206093739 OBX|39|NM|8124-0^CD3 cells/100 cells in Blood^LN^86007712^CD3+ T-Cells, Percent^L|1|60|% of Lymphs|53-84||||F|||20241206093739 OBX|40|NM|24467-3^CD3+CD4+ (T4 helper) cells [#/volume] in Blood^LN^86007713^CD3+/CD4+ T-Helper, Abs^L|1|2000|cells/uL|1600-4000||||F|||20241206093739 OBX|41|NM|8123-2^CD3+CD4+ (T4 helper) cells/100 cells in Blood^LN^86007714^CD3+/CD4+ T-Helper,Percent^L|1|40|% of Lymphs|35-64||||F|||20241206093739 OBX|42|NM|14135-8^CD3+CD8+ (T8 suppressor cells) cells [#/volume] in Blood^LN^86007715^CD3+/CD8+ T-Cytotoxic, Abs^L|1|1000|cells/uL|560-1700||||F|||20241206093739 OBX|43|NM|8101-8^CD3+CD8+ (T8 suppressor cells) cells/100 cells in Blood^LN^86007716^CD3+/CD8+T-Cytotox,Percent^L|1|15|% of Lymphs|12-28||||F|||20241206093739 OBX|44|NM|8116-6^CD19 cells [#/volume] in Blood^LN^86007717^CD19+ B-cells, Absolute^L|1|500|cells/uL|300-2000||||F|||20241206093739 OBX|45|NM|8117-4^CD19 cells/100 cells in Blood^LN^86007718^CD19+ B-cells, Percent^L|1|10|% of Lymphs|6-32||||F|||20241206093739 OBX|46|NM|9728-7^CD16C+CD56+ cells [#/volume] in Blood^LN^86007719^CD16/CD56 NK-cells, Abs^L|1|200|cells/uL|170-1100||||F|||20241206093739 OBX|47|NM|8112-5^CD16+CD56+ cells/100 cells in Blood^LN^86007720^CD16/CD56 NK-cells,Percent^L|1|9|% of Lymphs|4-18||||F|||20241206093739 OBX|48|NM|26759-1^CD4+CD45RA+cells [#/volume] in Blood^LN^86007721^CD3/CD4/CD45RA, Absolute^L|1|1500|cells/uL|1200-3700||||F|||20241206093739 OBX|49|NM|13336-3^CD4+CD45RA+cells/100 cells in Blood^LN^^CD3/CD4/CD45RA, Percent^L|1|8|% CD4|||||F|||20241206093739 OBX|50|NM|82743-6^CD8+CD45RA+ Cells # Bld^LN^86007723^CD3/CD8/CD45RA, Absolute^L|1|600|cells/uL|450-1500||||F|||20241206093739 OBX|51|NM|82744-4^CD8+CD45RA+ Cells/100 CD8 NFr Bld^LN^86007724^CD3/CD8/CD45RA, Percent^L|1|10|% CD8|||||F|||20241206093739 OBX|52|NM|85792-0^CD3+CD4+CD45RO+ # Bld^LN^86007725^CD3/CD4/CD45RO, Absolute^L|1|500|cells/uL|60-900||||F|||20241206093739 OBX|53|NM|85791-2^CD3+CD4+CD45RO+/100 CD3 NFr Bld^LN^86007726^CD3/CD4/CD45RO, Percent^L|1|5|% CD4|2-22||||F|||20241206093739 OBX|54|NM|85790-4^CD3+CD8+CD45RO+ # Bld^LN^86007727^CD3/CD8/CD45RO, Absolute^L|1|50|cells/uL|30-330||||F|||20241206093739 OBX|55|NM|85789-6^CD3+CD8+CD45RO+/100 CD3 NFr Bld^LN^86007728^CD3/CD8/CD45RO, Percent^L|1|2|% CD8|1-9||||F|||20241206093739 OBX|56|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241206093739 OBX|57|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Refer to CCS-approved Immunology Center|||A|||F|||20241206093739 diff --git a/examples/Test/Automated/GoldenCopy/Expected/009_CA_ORU_R01_CDPH_UCSD_MRN_80009320_pre_TI_TC001_Corrected.hl7 b/examples/Test/Automated/GoldenCopy/Expected/009_CA_ORU_R01_CDPH_UCSD_MRN_80009320_pre_TI_TC001_Corrected.hl7 new file mode 100644 index 000000000..c39db5416 --- /dev/null +++ b/examples/Test/Automated/GoldenCopy/Expected/009_CA_ORU_R01_CDPH_UCSD_MRN_80009320_pre_TI_TC001_Corrected.hl7 @@ -0,0 +1 @@ +MSH|^~\&|GOLDEN-COPY|CDPH|EPIC|R797|20241211115659||ORU^R01|009|N|2.5.1 PID|1||80009320||NEWBORNSCREEN^BOY RED||202408150826|M||1002-5^American Indian or Alaska Native||||||||||||2186-5^Not Hispanic or Latino||N|1 NK1|1|NEWBORNSCREEN^RED|MTH^Mother|9560 TOWNE CENTRE DR^^SAN DIEGO^CA^92121-1972^USA|^^^^^619^1234567|||||||||||19850426 ORC|RE|189671588^HospOrdNumber||7341237093^FormNumber||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|189671588^HospOrdNumber||54089-8^NB Screen Panel Patient AHIC^CDPHGSPEAP|||202409300941|||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI||||||20241211115659|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241211115659 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241211115659 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241211115659 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA12543-7^GALT^LN|||N|||F|||20241211115659 OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241211115659 OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\Acyl Carnitine Panel: Reference Ranges for acylcarnitines are based on specimens collected on newborns who are less than 10 days old. \.br\\.br\Galactosemia: Additional testing is required to rule out disorder.µCall your Newborn Screening Coordinator for assistance. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241211115659 OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241211115659 OBX|8|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241211115659 OBX|9|NM|8339-4^Birthweight^LN|1|3084|grams||N|||F|||20241211115659 OBX|10|TM|57715-5^Time of birth^LN|1|0826|||N|||F|||20241211115659 OBX|11|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241211115659 OBX|12|NM|73806-2^Newborn age in hours^LN|1|46|day(s)||N|||F|||20241211115659 OBX|13|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241211115659 OBX|14|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241211115659 OBX|15|TX|62324-9^Post-discharge provider name^LN|1|MARVIN ZAGULI|||N|||F|||20241211115659 OBX|16|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241211115659 OBX|17|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241211115659 OBX|18|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|µmol/L|<1000|N|||F|||20241211115659 OBX|19|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241211115659 OBX|20|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241211115659 OBX|21|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|µmol/L|<230|N|||F|||20241211115659 OBX|22|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241211115659 OBX|23|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|µmol/L|<175|N|||F|||20241211115659 OBX|24|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241211115659 OBX|25|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|µmol/L|<680|N|||F|||20241211115659 OBX|26|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|µmol/L|<6.1|N|||F|||20241211115659 OBX|27|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|µmol/L|6.3-100|N|||F|||20241211115659 OBX|28|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|µmol/L|5-49|N|||F|||20241211115659 OBX|29|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241211115659 OBX|30|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|µmol/L|<800|N|||F|||20241211115659 OBX|31|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241211115659 OBX|32|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|µmol/L|<63|N|||F|||20241211115659 OBX|33|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241211115659 OBX|34|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|µmol/L|<1500|N|||F|||20241211115659 OBX|35|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241211115659 OBX|36|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|37|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241211115659 OBX|38|NM|38481-8^Carnitine.free (C0)^LN|1|33|µmol/L|6.4-125|N|||F|||20241211115659 OBX|39|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241211115659 OBX|40|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|µmol/L|10-80|N|||F|||20241211115659 OBX|41|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241211115659 OBX|42|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|µmol/L|<0.95|N|||F|||20241211115659 OBX|43|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|µmol/L|<0.45|N|||F|||20241211115659 OBX|44|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241211115659 OBX|45|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|µmol/L|<0.65|N|||F|||20241211115659 OBX|46|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|µmol/L|<0.65|N|||F|||20241211115659 OBX|47|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|µmol/L|<0.45|N|||F|||20241211115659 OBX|48|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|µmol/L|<2|N|||F|||20241211115659 OBX|49|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|µmol/L||N|||F|||20241211115659 OBX|50|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|µmol/L|<1.2|N|||F|||20241211115659 OBX|51|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|µmol/L|<0.9|N|||F|||20241211115659 OBX|52|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241211115659 OBX|53|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|µmol/L||N|||F|||20241211115659 OBX|54|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|µmol/L|<0.2|N|||F|||20241211115659 OBX|55|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|µmol/L|<12|N|||F|||20241211115659 OBX|56|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|µmol/L|<1.4|N|||F|||20241211115659 OBX|57|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241211115659 OBX|58|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241211115659 OBX|59|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|µmol/L|<3.5|N|||F|||20241211115659 OBX|60|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|µmol/L|<7|N|||F|||20241211115659 OBX|61|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|µmol/L||N|||F|||20241211115659 OBX|62|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241211115659 OBX|63|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241211115659 OBX|64|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|µmol/L|<7.9|N|||F|||20241211115659 OBX|65|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241211115659 OBX|66|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|µmol/L|<0.48|N|||F|||20241211115659 OBX|67|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|µmol/L|<1.7|N|||F|||20241211115659 OBX|68|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|µmol/L|<0.95|N|||F|||20241211115659 OBX|69|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241211115659 OBX|70|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|µmol/L|<0.5|N|||F|||20241211115659 OBX|71|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|µmol/L|<1.15|N|||F|||20241211115659 OBX|72|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|µmol/L|<0.38|N|||F|||20241211115659 OBX|73|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241211115659 OBX|74|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241211115659 OBX|75|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|76|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241211115659 OBX|77|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<85|N|||F|||20241211115659 OBX|78|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|79|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211115659 OBX|80|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241211115659 OBX|81|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|82|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211115659 OBX|83|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|48.00|enzyme units|>50|L|||F|||20241211115659 OBX|84|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241211115659 OBX|85|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241211115659 OBX|86|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241211115659 OBX|87|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.µThese results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241211115659 OBX|88|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241211115659 OBX|89|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|90|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211115659 OBX|91|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/µL|>18|N|||F|||20241211115659 OBX|92|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|93|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211115659 OBX|94|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|µmol/L/h|>=18.2|N|||F|||20241211115659 OBX|95|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|96|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241211115659 OBX|97|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|µmol/L/h|>=18.2|N|||F|||20241211115659 OBX|98|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|99|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211115659 OBX|100|TX|PLT3293^SMN1 exon 7 deletion analysis in DBS by Sequencing^PLT^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241211115659 OBX|101|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|102|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241211115659 OBX|103|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|µmol/L/h|>=2.06|N|||F|||20241211115659 OBX|104|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|105|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211115659 OBX|106|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|107|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241211115659 OBX|108|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|µmol/L|<=3|N|||F|||20241211115659 OBX|109|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|µmol/L||N|||F|||20241211115659 OBX|110|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20241211115659 OBX|111|CE|85269-9^X-linked Adrenoleukodystrophy (X- ALD) newborn screen interpretation^LN^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241211115659 OBX|112|TX|85268-1^X-linked Adrenoleukodystrophy (X- ALD) newborn screening comment-discussion^LN^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241211115659 OBX|113|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|µmol/L|<0.47|N|||F|||20241211115659 diff --git a/examples/Test/Automated/GoldenCopy/Expected/010_CA_ORU_R01_CDPH_UCSD_MRN_80015980_pre_TI_TC006.hl7 b/examples/Test/Automated/GoldenCopy/Expected/010_CA_ORU_R01_CDPH_UCSD_MRN_80015980_pre_TI_TC006.hl7 new file mode 100644 index 000000000..253a3373f --- /dev/null +++ b/examples/Test/Automated/GoldenCopy/Expected/010_CA_ORU_R01_CDPH_UCSD_MRN_80015980_pre_TI_TC006.hl7 @@ -0,0 +1 @@ +MSH|^~\&|GOLDEN-COPY|CDPH|EPIC|R508|20241211110818||ORU^R01|010|N|2.5.1 PID|1||80015980||HIPPO^BOY A ALLIE||202412091336|M||2106-3^White||||||||||||2186-5^Not Hispanic or Latino||Y|1 NK1|1|HIPPO^ALLIE|MTH^Mother|518 BIG BEN WAY^^OCEANSIDE^CA^92058^USA|^^^^^442^2885325|||||||||||19941209 ORC|RE|189728187^HospOrdNumber||7302692465^FormNumber||||||||1427255868^JOHNSON^KATHRYN^^^^^^^^^^NPI|||||||||UC SAN DIEGO MEDICAL CENTER^^^^^^^^^R508|W 025TS HT71 , C #^^SAN DIEGO^CA^99999-9999 OBR|1|189728187^HospOrdNumber||54089-8^NB Screen Panel Patient AHIC^CDPHGSPEAP|||202412101409|||||||||1427255868^JOHNSON^KATHRYN^^^^^^^^^^NPI||||||20241211110818|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20241211110818 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241211110818 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241211110818 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA12533-8^CAH^LN|||N|||F|||20241211110818 OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241211110818 OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\CAH: An immediate referral to a CCS endocrine center or pediatric endocrinologist, for evaluation and additional testing, is strongly recommended. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Screen for CAH based on 17-OH P level and a steroid ratio level. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241211110818 OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241211110818 OBX|8|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241211110818 OBX|9|NM|8339-4^Birthweight^LN|1|2722|grams||N|||F|||20241211110818 OBX|10|TM|57715-5^Time of birth^LN|1|1336|||N|||F|||20241211110818 OBX|11|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241211110818 OBX|12|NM|73806-2^Newborn age in hours^LN|1|24|hour(s)||N|||F|||20241211110818 OBX|13|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241211110818 OBX|14|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241211110818 OBX|15|TX|62324-9^Post-discharge provider name^LN|1|MARVIN ZAGULI|||N|||F|||20241211110818 OBX|16|TX|62327-2^Post-discharge provider practice address^LN|1|W 025TS HT71 , C # SAN DIEGO CA 99999-9999 USA|||N|||F|||20241211110818 OBX|17|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241211110818 OBX|18|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|µmol/L|<1000|N|||F|||20241211110818 OBX|19|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241211110818 OBX|20|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241211110818 OBX|21|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|µmol/L|<230|N|||F|||20241211110818 OBX|22|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241211110818 OBX|23|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|µmol/L|<175|N|||F|||20241211110818 OBX|24|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241211110818 OBX|25|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|µmol/L|<680|N|||F|||20241211110818 OBX|26|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|µmol/L|<6.1|N|||F|||20241211110818 OBX|27|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|µmol/L|6.3-100|N|||F|||20241211110818 OBX|28|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|µmol/L|5-49|N|||F|||20241211110818 OBX|29|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241211110818 OBX|30|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|µmol/L|<800|N|||F|||20241211110818 OBX|31|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241211110818 OBX|32|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|µmol/L|<63|N|||F|||20241211110818 OBX|33|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241211110818 OBX|34|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|µmol/L|<1500|N|||F|||20241211110818 OBX|35|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241211110818 OBX|36|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|37|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241211110818 OBX|38|NM|38481-8^Carnitine.free (C0)^LN|1|33|µmol/L|6.4-125|N|||F|||20241211110818 OBX|39|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241211110818 OBX|40|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|µmol/L|10-80|N|||F|||20241211110818 OBX|41|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241211110818 OBX|42|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|µmol/L|<0.95|N|||F|||20241211110818 OBX|43|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|µmol/L|<0.45|N|||F|||20241211110818 OBX|44|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241211110818 OBX|45|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|µmol/L|<0.65|N|||F|||20241211110818 OBX|46|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|µmol/L|<0.65|N|||F|||20241211110818 OBX|47|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|µmol/L|<0.45|N|||F|||20241211110818 OBX|48|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|µmol/L|<2|N|||F|||20241211110818 OBX|49|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|µmol/L||N|||F|||20241211110818 OBX|50|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|µmol/L|<1.2|N|||F|||20241211110818 OBX|51|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|µmol/L|<0.9|N|||F|||20241211110818 OBX|52|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241211110818 OBX|53|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|µmol/L||N|||F|||20241211110818 OBX|54|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|µmol/L|<0.2|N|||F|||20241211110818 OBX|55|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|µmol/L|<12|N|||F|||20241211110818 OBX|56|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|µmol/L|<1.4|N|||F|||20241211110818 OBX|57|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241211110818 OBX|58|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241211110818 OBX|59|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|µmol/L|<3.5|N|||F|||20241211110818 OBX|60|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|µmol/L|<7|N|||F|||20241211110818 OBX|61|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|µmol/L||N|||F|||20241211110818 OBX|62|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241211110818 OBX|63|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241211110818 OBX|64|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|µmol/L|<7.9|N|||F|||20241211110818 OBX|65|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241211110818 OBX|66|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|µmol/L|<0.48|N|||F|||20241211110818 OBX|67|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|µmol/L|<1.7|N|||F|||20241211110818 OBX|68|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|µmol/L|<0.95|N|||F|||20241211110818 OBX|69|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241211110818 OBX|70|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|µmol/L|<0.5|N|||F|||20241211110818 OBX|71|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|µmol/L|<1.15|N|||F|||20241211110818 OBX|72|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|µmol/L|<0.38|N|||F|||20241211110818 OBX|73|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241211110818 OBX|74|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241211110818 OBX|75|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|76|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241211110818 OBX|77|NM|38473-5^17-Hydroxyprogesterone^LN|1|65.88|nmol/L|<85|N|||F|||20241211110818 OBX|78|NM|53340-6^17-Hydroxyprogesterone [Moles/volume] in DBS^LN^99717-6^17-Hydroxyprogesterone (CAH II)^L|1|39|nmol/L|<38|H|||F|||20241211110818 OBX|79|NM|53343-0^Androstenedione^LN|1|40.15|nmol/L||N|||F|||20241211110818 OBX|80|NM|53345-5^Cortisol^LN|1|85|nmol/L||N|||F|||20241211110818 OBX|81|NM|53336-4^17-Hydroxyprogesterone+Androstenedione/Cortisol^LN|1|0.93|{Ratio}|<1|N|||F|||20241211110818 OBX|82|NM|53341-4^21-Deoxycortisol [Mass/volume] in Dried blood spot^LN|1|90.9|nmol/L|<5|H|||F|||20241211110818 OBX|83|NM|53347-1^11-Deoxycorticosterone [Mass/volume] in Dried blood spot^LN|1|590|nmol/L|<240|H|||F|||20241211110818 OBX|84|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241211110818 OBX|85|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241211110818 OBX|86|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241211110818 OBX|87|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|88|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211110818 OBX|89|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|55.00|enzyme units|>50|N|||F|||20241211110818 OBX|90|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|91|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211110818 OBX|92|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241211110818 OBX|93|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.µThese results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241211110818 OBX|94|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241211110818 OBX|95|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|96|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211110818 OBX|97|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/µL|>18|N|||F|||20241211110818 OBX|98|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|99|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211110818 OBX|100|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|µmol/L/h|>=18.2|N|||F|||20241211110818 OBX|101|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|102|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241211110818 OBX|103|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|µmol/L/h|>=18.2|N|||F|||20241211110818 OBX|104|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|105|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211110818 OBX|106|TX|PLT3293^SMN1 exon 7 deletion analysis in DBS by Sequencing^PLT^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241211110818 OBX|107|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|108|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241211110818 OBX|109|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|µmol/L/h|>=2.06|N|||F|||20241211110818 OBX|110|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|111|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241211110818 OBX|112|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|113|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241211110818 OBX|114|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|µmol/L|<=3|N|||F|||20241211110818 OBX|115|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|µmol/L||N|||F|||20241211110818 OBX|116|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20241211110818 OBX|117|CE|85269-9^X-linked Adrenoleukodystrophy (X- ALD) newborn screen interpretation^LN^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241211110818 OBX|118|TX|85268-1^X-linked Adrenoleukodystrophy (X- ALD) newborn screening comment-discussion^LN^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241211110818 OBX|119|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|µmol/L|<0.47|N|||F|||20241211110818 diff --git a/examples/Test/Automated/GoldenCopy/Expected/011_CA_ORU_R01_CDPH_UCSD_MRN_80015981_pre_TI_TC008.hl7 b/examples/Test/Automated/GoldenCopy/Expected/011_CA_ORU_R01_CDPH_UCSD_MRN_80015981_pre_TI_TC008.hl7 new file mode 100644 index 000000000..ae2871c8c --- /dev/null +++ b/examples/Test/Automated/GoldenCopy/Expected/011_CA_ORU_R01_CDPH_UCSD_MRN_80015981_pre_TI_TC008.hl7 @@ -0,0 +1 @@ +MSH|^~\&|GOLDEN-COPY|CDPH|EPIC|R508|20241211104422||ORU^R01|011|N|2.5.1 PID|1||80015981||HIPPO^BOY B ALLIE||202412091336|M||2106-3^White||||||||||||2186-5^Not Hispanic or Latino||Y|2 NK1|1|HIPPO^ALLIE|MTH^Mother|518 BIG BEN WAY^^OCEANSIDE^CA^92058^USA|^^^^^442^2885325|||||||||||19941209 ORC|RE|189728238^HospOrdNumber||7322694174^FormNumber||||||||1427255868^JOHNSON^KATHRYN^^^^^^^^^^NPI|||||||||UC SAN DIEGO MEDICAL CENTER^^^^^^^^^R508|W 025TS HT71 , C #^^SAN DIEGO^CA^99999-9999 OBR|1|189728238^HospOrdNumber||54089-8^NB Screen Panel Patient AHIC^CDPHGSPEAP|||202412101414|||||||||1427255868^JOHNSON^KATHRYN^^^^^^^^^^NPI||||||20241211104422|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12427-3^Subsequent screen - for clarification of initial results (not by law or protocol)^LN|||N|||F|||20241211104422 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12443-0^Specimen quantity insufficient for testing^LN|||N|||F|||20241211104422 OBX|3|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241211104422 OBX|4|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20241211104422 OBX|5|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\ NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\** This specimen was inadequate for testing for the following reason: ** 13 - Specimen not collected on acceptable filter paper including expired form THE PHYSICIAN LISTED HAS BEEN NOTIFIED \.br\\.br\|||N|||F|||20241211104422 OBX|6|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241211104422 OBX|7|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241211104422 OBX|8|NM|8339-4^Birthweight^LN|1|2812|grams||N|||F|||20241211104422 OBX|9|TM|57715-5^Time of birth^LN|1|1336|||N|||F|||20241211104422 OBX|10|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12412-5^Twins^LN|||N|||F|||20241211104422 OBX|11|NM|73806-2^Newborn age in hours^LN|1|24|hour(s)||N|||F|||20241211104422 OBX|12|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241211104422 OBX|13|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20241211104422 OBX|14|TX|62324-9^Post-discharge provider name^LN|1|EUSTRATIA HUBBARD|||N|||F|||20241211104422 OBX|15|TX|62327-2^Post-discharge provider practice address^LN|1|W 025TS HT71 , C # SAN DIEGO CA 99999-9999 USA|||N|||F|||20241211104422 diff --git a/examples/Test/Automated/Assertion/001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004.hl7 b/examples/Test/Automated/GoldenCopy/Input/001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004.hl7 similarity index 100% rename from examples/Test/Automated/Assertion/001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004.hl7 rename to examples/Test/Automated/GoldenCopy/Input/001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004.hl7 diff --git a/examples/Test/Automated/Assertion/002_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002B.hl7 b/examples/Test/Automated/GoldenCopy/Input/002_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002B.hl7 similarity index 100% rename from examples/Test/Automated/Assertion/002_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002B.hl7 rename to examples/Test/Automated/GoldenCopy/Input/002_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002B.hl7 diff --git a/examples/Test/Automated/Assertion/003_CA_ORU_R01_CDPH_UCSD_189671588_pre_TI_TC001.hl7 b/examples/Test/Automated/GoldenCopy/Input/003_CA_ORU_R01_CDPH_UCSD_189671588_pre_TI_TC001.hl7 similarity index 100% rename from examples/Test/Automated/Assertion/003_CA_ORU_R01_CDPH_UCSD_189671588_pre_TI_TC001.hl7 rename to examples/Test/Automated/GoldenCopy/Input/003_CA_ORU_R01_CDPH_UCSD_189671588_pre_TI_TC001.hl7 diff --git a/examples/Test/Automated/Assertion/004_CA_ORU_R01_CDPH_UCSD_189700664_pre_TI_TC000.hl7 b/examples/Test/Automated/GoldenCopy/Input/004_CA_ORU_R01_CDPH_UCSD_189700664_pre_TI_TC000.hl7 similarity index 100% rename from examples/Test/Automated/Assertion/004_CA_ORU_R01_CDPH_UCSD_189700664_pre_TI_TC000.hl7 rename to examples/Test/Automated/GoldenCopy/Input/004_CA_ORU_R01_CDPH_UCSD_189700664_pre_TI_TC000.hl7 diff --git a/examples/Test/Automated/Assertion/005_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002C.hl7 b/examples/Test/Automated/GoldenCopy/Input/005_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002C.hl7 similarity index 100% rename from examples/Test/Automated/Assertion/005_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002C.hl7 rename to examples/Test/Automated/GoldenCopy/Input/005_CA_ORU_R01_CDPH_UCSD_189693889_pre_TI_TC002C.hl7 diff --git a/examples/Test/Automated/Assertion/006_CA_ORU_R01_CDPH_UCSD_189716938_pre_TI_TC002A.hl7 b/examples/Test/Automated/GoldenCopy/Input/006_CA_ORU_R01_CDPH_UCSD_189716938_pre_TI_TC002A.hl7 similarity index 100% rename from examples/Test/Automated/Assertion/006_CA_ORU_R01_CDPH_UCSD_189716938_pre_TI_TC002A.hl7 rename to examples/Test/Automated/GoldenCopy/Input/006_CA_ORU_R01_CDPH_UCSD_189716938_pre_TI_TC002A.hl7 diff --git a/examples/Test/Automated/Assertion/007_CA_ORU_R01_CDPH_UCSD_189717091_80015955_pre_TI_TC007A.hl7 b/examples/Test/Automated/GoldenCopy/Input/007_CA_ORU_R01_CDPH_UCSD_189717091_80015955_pre_TI_TC007A.hl7 similarity index 100% rename from examples/Test/Automated/Assertion/007_CA_ORU_R01_CDPH_UCSD_189717091_80015955_pre_TI_TC007A.hl7 rename to examples/Test/Automated/GoldenCopy/Input/007_CA_ORU_R01_CDPH_UCSD_189717091_80015955_pre_TI_TC007A.hl7 diff --git a/examples/Test/Automated/Assertion/008_CA_ORU_R01_CDPH_UCSD_MRN_80015955_pre_TI_TC007B.hl7 b/examples/Test/Automated/GoldenCopy/Input/008_CA_ORU_R01_CDPH_UCSD_MRN_80015955_pre_TI_TC007B.hl7 similarity index 100% rename from examples/Test/Automated/Assertion/008_CA_ORU_R01_CDPH_UCSD_MRN_80015955_pre_TI_TC007B.hl7 rename to examples/Test/Automated/GoldenCopy/Input/008_CA_ORU_R01_CDPH_UCSD_MRN_80015955_pre_TI_TC007B.hl7 diff --git a/examples/Test/Automated/Assertion/009_CA_ORU_R01_CDPH_UCSD_MRN_80009320_pre_TI_TC001_Corrected.hl7 b/examples/Test/Automated/GoldenCopy/Input/009_CA_ORU_R01_CDPH_UCSD_MRN_80009320_pre_TI_TC001_Corrected.hl7 similarity index 100% rename from examples/Test/Automated/Assertion/009_CA_ORU_R01_CDPH_UCSD_MRN_80009320_pre_TI_TC001_Corrected.hl7 rename to examples/Test/Automated/GoldenCopy/Input/009_CA_ORU_R01_CDPH_UCSD_MRN_80009320_pre_TI_TC001_Corrected.hl7 diff --git a/examples/Test/Automated/Assertion/010_CA_ORU_R01_CDPH_UCSD_MRN_80015980_pre_TI_TC006.hl7 b/examples/Test/Automated/GoldenCopy/Input/010_CA_ORU_R01_CDPH_UCSD_MRN_80015980_pre_TI_TC006.hl7 similarity index 100% rename from examples/Test/Automated/Assertion/010_CA_ORU_R01_CDPH_UCSD_MRN_80015980_pre_TI_TC006.hl7 rename to examples/Test/Automated/GoldenCopy/Input/010_CA_ORU_R01_CDPH_UCSD_MRN_80015980_pre_TI_TC006.hl7 diff --git a/examples/Test/Automated/Assertion/011_CA_ORU_R01_CDPH_UCSD_MRN_80015981_pre_TI_TC008.hl7 b/examples/Test/Automated/GoldenCopy/Input/011_CA_ORU_R01_CDPH_UCSD_MRN_80015981_pre_TI_TC008.hl7 similarity index 100% rename from examples/Test/Automated/Assertion/011_CA_ORU_R01_CDPH_UCSD_MRN_80015981_pre_TI_TC008.hl7 rename to examples/Test/Automated/GoldenCopy/Input/011_CA_ORU_R01_CDPH_UCSD_MRN_80015981_pre_TI_TC008.hl7 From 7ba9b0bae128718c6b0b9ecdba117ba5b1f5de32 Mon Sep 17 00:00:00 2001 From: James Herr Date: Tue, 31 Dec 2024 11:20:20 -0600 Subject: [PATCH 60/61] Pushing to trigger Action Co-Authored-By: Sylvie <38440028+somesylvie@users.noreply.github.com> Co-Authored-By: James Gilmore <109554461+GilmoreA6@users.noreply.github.com> --- .../rse2e/ruleengine/AssertionRuleEngineTest.groovy | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/ruleengine/AssertionRuleEngineTest.groovy b/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/ruleengine/AssertionRuleEngineTest.groovy index 9869d7634..c3bb3ef29 100644 --- a/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/ruleengine/AssertionRuleEngineTest.groovy +++ b/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/ruleengine/AssertionRuleEngineTest.groovy @@ -41,7 +41,7 @@ class AssertionRuleEngineTest extends Specification { ruleEngine.getRules().size() == 1 } - def "ensureRulesLoaded loads rules only once by default"() { + def "ensureRulesLoaded loads rules only once by default"() { given: mockRuleLoader.loadRules(_ as InputStream, _ as TypeReference) >> [mockRule] From 1232ae416b3b51aaaf5d98c1e3b1b3b1bab92a30 Mon Sep 17 00:00:00 2001 From: James Herr Date: Tue, 31 Dec 2024 11:28:40 -0600 Subject: [PATCH 61/61] Troubleshooting validation error Co-Authored-By: Sylvie <38440028+somesylvie@users.noreply.github.com> Co-Authored-By: James Gilmore <109554461+GilmoreA6@users.noreply.github.com> --- .../001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004.hl7 | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/examples/Test/Automated/GoldenCopy/Expected/001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004.hl7 b/examples/Test/Automated/GoldenCopy/Expected/001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004.hl7 index 050386ea7..1103532ad 100644 --- a/examples/Test/Automated/GoldenCopy/Expected/001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004.hl7 +++ b/examples/Test/Automated/GoldenCopy/Expected/001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004.hl7 @@ -1 +1 @@ -MSH|^~\&|GOLDEN-COPY|CDPH|EPIC|R797|20241015054631||ORU^R01|001|N|2.5.1 PID|1||80015867||CDPHTWO^GIRL MOMTWO||202410071025|F||2076-8^Native Hawaiian or Other Pacific Islander||||||||||||2186-5^Not Hispanic or Latino||N|1 NK1|1|CDPHTWO^MOMTWO|MTH^Mother|2 SECOND ST^^SAN DIEGO^CA^92121^USA||||||||||||20000202 ORC|RE|189688314^HospOrdNumber||7371237714^FormNumber||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|189688314^HospOrdNumber||54089-8^NB Screen Panel Patient AHIC^CDPHGSPEAP|||202410081133|||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI||||||20241015054631|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12427-3^Subsequent screen - for clarification of initial results (not by law or protocol)^LN|||N|||F|||20241015054631 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241015054631 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241015054631 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA12543-7^GALT^LN|||N|||F|||20241015054631 OBX|5|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|2|LA12533-8^CAH^LN|||N|||F|||20241015054631 OBX|6|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA12566-8^SCID^LN|||N|||F|||20241015054631 OBX|7|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|2|LA14037-8^GAA^LN|||N|||F|||20241015054631 OBX|8|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\CAH: An immediate referral to a CCS endocrine center or pediatric endocrinologist, for evaluation and additional testing, is strongly recommended. \.br\\.br\Pompe: Another dried blood specimen MUST be collected for this child. Call your Newborn Screening Coordinator for assistance. \.br\\.br\SCID: Another dried blood specimen MUST be collected for this child. Call your Newborn Screening Coordinator for assistance. \.br\\.br\Galactosemia: Additional testing is required to rule out disorder.µCall your Newborn Screening Coordinator for assistance. \.br\\.br\ATTENTION: THIS CHILD HAS TESTED POSITIVE FOR MORE THAN ONE TEST. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241015054631 OBX|9|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241015054631 OBX|10|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241015054631 OBX|11|NM|8339-4^Birthweight^LN|1|3175|grams||N|||F|||20241015054631 OBX|12|TM|57715-5^Time of birth^LN|1|1025|||N|||F|||20241015054631 OBX|13|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241015054631 OBX|14|NM|73806-2^Newborn age in hours^LN|1|25|hour(s)||N|||F|||20241015054631 OBX|15|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241015054631 OBX|16|CE|67704-7^Feeding types^LN|1|LA4489-6^Unknown^LN|||N|||F|||20241015054631 OBX|17|TX|62324-9^Post-discharge provider name^LN|1|DENISE COYLE|||N|||F|||20241015054631 OBX|18|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241015054631 OBX|19|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241015054631 OBX|20|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|µmol/L|<1000|N|||F|||20241015054631 OBX|21|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241015054631 OBX|22|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241015054631 OBX|23|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|µmol/L|<230|N|||F|||20241015054631 OBX|24|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241015054631 OBX|25|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|µmol/L|<175|N|||F|||20241015054631 OBX|26|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241015054631 OBX|27|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|µmol/L|<680|N|||F|||20241015054631 OBX|28|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|µmol/L|<6.1|N|||F|||20241015054631 OBX|29|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|µmol/L|6.3-100|N|||F|||20241015054631 OBX|30|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|µmol/L|5-49|N|||F|||20241015054631 OBX|31|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241015054631 OBX|32|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|µmol/L|<800|N|||F|||20241015054631 OBX|33|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241015054631 OBX|34|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|µmol/L|<63|N|||F|||20241015054631 OBX|35|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241015054631 OBX|36|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|µmol/L|<1500|N|||F|||20241015054631 OBX|37|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|38|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|39|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|40|NM|38481-8^Carnitine.free (C0)^LN|1|33|µmol/L|6.4-125|N|||F|||20241015054631 OBX|41|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241015054631 OBX|42|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|µmol/L|10-80|N|||F|||20241015054631 OBX|43|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241015054631 OBX|44|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|µmol/L|<0.95|N|||F|||20241015054631 OBX|45|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|µmol/L|<0.45|N|||F|||20241015054631 OBX|46|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241015054631 OBX|47|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|µmol/L|<0.65|N|||F|||20241015054631 OBX|48|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|µmol/L|<0.65|N|||F|||20241015054631 OBX|49|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|µmol/L|<0.45|N|||F|||20241015054631 OBX|50|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|µmol/L|<2|N|||F|||20241015054631 OBX|51|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|µmol/L||N|||F|||20241015054631 OBX|52|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|µmol/L|<1.2|N|||F|||20241015054631 OBX|53|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|µmol/L|<0.9|N|||F|||20241015054631 OBX|54|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241015054631 OBX|55|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|µmol/L||N|||F|||20241015054631 OBX|56|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|µmol/L|<0.2|N|||F|||20241015054631 OBX|57|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|µmol/L|<12|N|||F|||20241015054631 OBX|58|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|µmol/L|<1.4|N|||F|||20241015054631 OBX|59|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241015054631 OBX|60|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241015054631 OBX|61|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|µmol/L|<3.5|N|||F|||20241015054631 OBX|62|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|µmol/L|<7|N|||F|||20241015054631 OBX|63|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|µmol/L||N|||F|||20241015054631 OBX|64|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241015054631 OBX|65|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241015054631 OBX|66|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|µmol/L|<7.9|N|||F|||20241015054631 OBX|67|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241015054631 OBX|68|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|µmol/L|<0.48|N|||F|||20241015054631 OBX|69|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|µmol/L|<1.7|N|||F|||20241015054631 OBX|70|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|µmol/L|<0.95|N|||F|||20241015054631 OBX|71|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241015054631 OBX|72|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|µmol/L|<0.5|N|||F|||20241015054631 OBX|73|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|µmol/L|<1.15|N|||F|||20241015054631 OBX|74|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|µmol/L|<0.38|N|||F|||20241015054631 OBX|75|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241015054631 OBX|76|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241015054631 OBX|77|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|78|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|79|NM|38473-5^17-Hydroxyprogesterone^LN|1|305|nmol/L|<85|H|||F|||20241015054631 OBX|80|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241015054631 OBX|81|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241015054631 OBX|82|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241015054631 OBX|83|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|84|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|85|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|48.00|enzyme units|>50|L|||F|||20241015054631 OBX|86|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241015054631 OBX|87|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241015054631 OBX|88|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241015054631 OBX|89|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.µThese results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241015054631 OBX|90|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241015054631 OBX|91|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|92|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|93|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|2|copies/µL|>18|L|||F|||20241015054631 OBX|94|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA11884-6^Indeterminate^LN|||A|||F|||20241015054631 OBX|95|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Incomplete|||A|||F|||20241015054631 OBX|96|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA16205-9^Specimen unsatisfactory for at least one condition^LN|||A|||F|||20241015054631 OBX|97|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Incomplete|||A|||F|||20241015054631 OBX|98|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|µmol/L/h|>=18.2|N|||F|||20241015054631 OBX|99|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|100|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|101|TX|PLT3293^SMN1 exon 7 deletion analysis in DBS by Sequencing^PLT^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241015054631 OBX|102|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|103|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241015054631 OBX|104|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|µmol/L/h|>=2.06|N|||F|||20241015054631 OBX|105|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|106|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|107|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|108|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|109|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|µmol/L|<=3|N|||F|||20241015054631 OBX|110|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|µmol/L||N|||F|||20241015054631 OBX|111|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20241015054631 OBX|112|CE|85269-9^X-linked Adrenoleukodystrophy (X- ALD) newborn screen interpretation^LN^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|113|TX|85268-1^X-linked Adrenoleukodystrophy (X- ALD) newborn screening comment-discussion^LN^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241015054631 OBX|114|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|µmol/L|<0.47|N|||F|||20241015054631 +MSH|^~\&|GOLDEN-COPY|CDPH|EPIC|R797|20241015054631||ORU^R01|001|N|2.5.1 PID|1||80015867||CDPHTWO^GIRL MOMTWO||202410071025|F||2076-8^Native Hawaiian or Other Pacific Islander||||||||||||2186-5^Not Hispanic or Latino||N|1 NK1|1|CDPHTWO^MOMTWO|MTH^Mother|2 SECOND ST^^SAN DIEGO^CA^92121^USA||||||||||||20000202 ORC|RE|189688314^HospOrdNumber||7371237714^FormNumber||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|189688314^HospOrdNumber||54089-8^NB Screen Panel Patient AHIC^CDPHGSPEAP|||202410081133|||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI||||||20241015054631|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12427-3^Subsequent screen - for clarification of initial results (not by law or protocol)^LN|||N|||F|||20241015054631 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241015054631 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20241015054631 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA12543-7^GALT^LN|||N|||F|||20241015054631 OBX|5|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|2|LA12533-8^CAH^LN|||N|||F|||20241015054631 OBX|6|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA12566-8^SCID^LN|||N|||F|||20241015054631 OBX|7|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|2|LA14037-8^GAA^LN|||N|||F|||20241015054631 OBX|8|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\CAH: An immediate referral to a CCS endocrine center or pediatric endocrinologist, for evaluation and additional testing, is strongly recommended. \.br\\.br\Pompe: Another dried blood specimen MUST be collected for this child. Call your Newborn Screening Coordinator for assistance. \.br\\.br\SCID: Another dried blood specimen MUST be collected for this child. Call your Newborn Screening Coordinator for assistance. \.br\\.br\Galactosemia: Additional testing is required to rule out disorder.µCall your Newborn Screening Coordinator for assistance. \.br\\.br\ATTENTION: THIS CHILD HAS TESTED POSITIVE FOR MORE THAN ONE TEST. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (126) 411-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241015054631 OBX|9|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241015054631 OBX|10|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241015054631 OBX|11|NM|8339-4^Birthweight^LN|1|3175|grams||N|||F|||20241015054631 OBX|12|TM|57715-5^Time of birth^LN|1|1025|||N|||F|||20241015054631 OBX|13|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241015054631 OBX|14|NM|73806-2^Newborn age in hours^LN|1|25|hour(s)||N|||F|||20241015054631 OBX|15|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241015054631 OBX|16|CE|67704-7^Feeding types^LN|1|LA4489-6^Unknown^LN|||N|||F|||20241015054631 OBX|17|TX|62324-9^Post-discharge provider name^LN|1|DENISE COYLE|||N|||F|||20241015054631 OBX|18|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241015054631 OBX|19|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241015054631 OBX|20|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|µmol/L|<1000|N|||F|||20241015054631 OBX|21|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241015054631 OBX|22|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241015054631 OBX|23|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|µmol/L|<230|N|||F|||20241015054631 OBX|24|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241015054631 OBX|25|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|µmol/L|<175|N|||F|||20241015054631 OBX|26|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241015054631 OBX|27|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|µmol/L|<680|N|||F|||20241015054631 OBX|28|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|µmol/L|<6.1|N|||F|||20241015054631 OBX|29|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|µmol/L|6.3-100|N|||F|||20241015054631 OBX|30|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|µmol/L|5-49|N|||F|||20241015054631 OBX|31|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241015054631 OBX|32|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|µmol/L|<800|N|||F|||20241015054631 OBX|33|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241015054631 OBX|34|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|µmol/L|<63|N|||F|||20241015054631 OBX|35|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241015054631 OBX|36|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|µmol/L|<1500|N|||F|||20241015054631 OBX|37|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|38|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|39|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|40|NM|38481-8^Carnitine.free (C0)^LN|1|33|µmol/L|6.4-125|N|||F|||20241015054631 OBX|41|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241015054631 OBX|42|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|µmol/L|10-80|N|||F|||20241015054631 OBX|43|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241015054631 OBX|44|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|µmol/L|<0.95|N|||F|||20241015054631 OBX|45|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|µmol/L|<0.45|N|||F|||20241015054631 OBX|46|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241015054631 OBX|47|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|µmol/L|<0.65|N|||F|||20241015054631 OBX|48|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|µmol/L|<0.65|N|||F|||20241015054631 OBX|49|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|µmol/L|<0.45|N|||F|||20241015054631 OBX|50|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|µmol/L|<2|N|||F|||20241015054631 OBX|51|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|µmol/L||N|||F|||20241015054631 OBX|52|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|µmol/L|<1.2|N|||F|||20241015054631 OBX|53|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|µmol/L|<0.9|N|||F|||20241015054631 OBX|54|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241015054631 OBX|55|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|µmol/L||N|||F|||20241015054631 OBX|56|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|µmol/L|<0.2|N|||F|||20241015054631 OBX|57|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|µmol/L|<12|N|||F|||20241015054631 OBX|58|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|µmol/L|<1.4|N|||F|||20241015054631 OBX|59|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241015054631 OBX|60|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241015054631 OBX|61|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|µmol/L|<3.5|N|||F|||20241015054631 OBX|62|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|µmol/L|<7|N|||F|||20241015054631 OBX|63|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|µmol/L||N|||F|||20241015054631 OBX|64|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241015054631 OBX|65|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241015054631 OBX|66|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|µmol/L|<7.9|N|||F|||20241015054631 OBX|67|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241015054631 OBX|68|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|µmol/L|<0.48|N|||F|||20241015054631 OBX|69|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|µmol/L|<1.7|N|||F|||20241015054631 OBX|70|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|µmol/L|<0.95|N|||F|||20241015054631 OBX|71|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241015054631 OBX|72|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|µmol/L|<0.5|N|||F|||20241015054631 OBX|73|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|µmol/L|<1.15|N|||F|||20241015054631 OBX|74|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|µmol/L|<0.38|N|||F|||20241015054631 OBX|75|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241015054631 OBX|76|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241015054631 OBX|77|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|78|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|79|NM|38473-5^17-Hydroxyprogesterone^LN|1|305|nmol/L|<85|H|||F|||20241015054631 OBX|80|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241015054631 OBX|81|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241015054631 OBX|82|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241015054631 OBX|83|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|84|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|85|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|48.00|enzyme units|>50|L|||F|||20241015054631 OBX|86|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241015054631 OBX|87|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241015054631 OBX|88|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241015054631 OBX|89|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.µThese results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241015054631 OBX|90|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241015054631 OBX|91|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|92|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|93|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|2|copies/µL|>18|L|||F|||20241015054631 OBX|94|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA11884-6^Indeterminate^LN|||A|||F|||20241015054631 OBX|95|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Incomplete|||A|||F|||20241015054631 OBX|96|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA16205-9^Specimen unsatisfactory for at least one condition^LN|||A|||F|||20241015054631 OBX|97|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Incomplete|||A|||F|||20241015054631 OBX|98|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|µmol/L/h|>=18.2|N|||F|||20241015054631 OBX|99|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|100|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|101|TX|PLT3293^SMN1 exon 7 deletion analysis in DBS by Sequencing^PLT^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241015054631 OBX|102|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|103|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241015054631 OBX|104|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|µmol/L/h|>=2.06|N|||F|||20241015054631 OBX|105|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|106|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|107|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|108|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|109|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|µmol/L|<=3|N|||F|||20241015054631 OBX|110|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|µmol/L||N|||F|||20241015054631 OBX|111|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20241015054631 OBX|112|CE|85269-9^X-linked Adrenoleukodystrophy (X- ALD) newborn screen interpretation^LN^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|113|TX|85268-1^X-linked Adrenoleukodystrophy (X- ALD) newborn screening comment-discussion^LN^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241015054631 OBX|114|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|µmol/L|<0.47|N|||F|||20241015054631|