diff --git a/.github/workflows/automated-staging-test-run.yml b/.github/workflows/automated-staging-test-run.yml index ccfafc56e..2027aa78f 100644 --- a/.github/workflows/automated-staging-test-run.yml +++ b/.github/workflows/automated-staging-test-run.yml @@ -6,23 +6,10 @@ on: workflow_dispatch: 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 }} - run: ./gradlew rs-e2e:clean rs-e2e:automatedTest - - - name: Send slack notification on test failure - if: failure() - uses: slackapi/slack-github-action@v2.0.0 - with: - webhook: ${{ secrets.SLACK_WEBHOOK_URL }} - webhook-type: incoming-webhook - payload: | - text: "Automated Staging RS Integration Test Failed!: https://github.com/CDCgov/trusted-intermediary/actions/runs/${{ github.run_id }}" + call-staging-test-run: + uses: ./.github/workflows/staging-test-run_reusable.yml + with: + FILE_PATH: '../examples/Test/Automated/Assertion/' + NAME: 'Automated' + TEST_TYPE: 'automatedTest' + secrets: inherit # pragma: allowlist secret diff --git a/.github/workflows/automated-staging-test-submit.yml b/.github/workflows/automated-staging-test-submit.yml index 0733accfa..77461cf33 100644 --- a/.github/workflows/automated-staging-test-submit.yml +++ b/.github/workflows/automated-staging-test-submit.yml @@ -18,8 +18,8 @@ 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: | @@ -28,32 +28,33 @@ 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 $host --no-iat -S @/tmp/staging_private_key.pem) - - token=$(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/*.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 \ - "$host/api/waters" - done + shopt -s globstar + host=https://staging.prime.cdc.gov:443 + client_id=flexion + client_sender=simulated-sender + jwt=$(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/**/*.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/.github/workflows/golden-copy-staging-test-run.yml b/.github/workflows/golden-copy-staging-test-run.yml new file mode 100644 index 000000000..934215027 --- /dev/null +++ b/.github/workflows/golden-copy-staging-test-run.yml @@ -0,0 +1,16 @@ +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: + +jobs: + 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' + secrets: inherit # pragma: allowlist secret diff --git a/.github/workflows/staging-test-run_reusable.yml b/.github/workflows/staging-test-run_reusable.yml new file mode 100644 index 000000000..18b847ea8 --- /dev/null +++ b/.github/workflows/staging-test-run_reusable.yml @@ -0,0 +1,49 @@ +name: Staging Test - Run integration tests + +on: + workflow_call: + inputs: + TEST_TYPE: + 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/Assertion/' + secrets: + AUTOMATED_TEST_AZURE_STORAGE_CONNECTION_STRING: + required: true + SLACK_WEBHOOK_URL: + 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: ${{ inputs.FILE_PATH }} + run: | + ./gradlew rs-e2e:clean rs-e2e:${{ inputs.TEST_TYPE }} + + - name: Send slack notification on test failure + if: failure() + uses: slackapi/slack-github-action@v2.0.0 + with: + webhook: ${{ secrets.SLACK_WEBHOOK_URL }} + webhook-type: incoming-webhook + payload: | + text: "${{ inputs.NAME }} Staging RS Integration Test Failed!: https://github.com/CDCgov/trusted-intermediary/actions/runs/${{ github.run_id }}" 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/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/README.md b/examples/Test/Automated/Assertion/README.md similarity index 100% rename from examples/Test/Automated/README.md rename to examples/Test/Automated/Assertion/README.md 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..1103532ad --- /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/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 new file mode 100644 index 000000000..74972cc49 --- /dev/null +++ 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.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 new file mode 100644 index 000000000..3e4177ee9 --- /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|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 new file mode 100644 index 000000000..664a3811a --- /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|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 new file mode 100644 index 000000000..1ab4d1dd6 --- /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|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 new file mode 100644 index 000000000..a3778b75c --- /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|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 new file mode 100644 index 000000000..0eaaa5f50 --- /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.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 new file mode 100644 index 000000000..32f024724 --- /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|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/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..2914afa46 --- /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.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 new file mode 100644 index 000000000..472f9604a --- /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|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 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 new file mode 100644 index 000000000..afbb225af --- /dev/null +++ b/examples/Test/Automated/GoldenCopy/README.md @@ -0,0 +1,24 @@ +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/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 +[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 + +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` +- `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")" diff --git a/rs-e2e/build.gradle b/rs-e2e/build.gradle index bff4eafe8..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) { @@ -42,3 +43,13 @@ task automatedTest(type: Test) { exceptionFormat 'full' } } + +task goldenCopyTest(type: Test) { + useJUnitPlatform() + include '**/GoldenCopyTest.*' + + testLogging { + showStackTraces true + exceptionFormat 'full' + } +} 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 4f61997e0..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 @@ -46,13 +46,23 @@ 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 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-COPY")) { + testTypeAndSourceName = "GoldenCopy/" + sourceName; + } + String destinationName = - AzureBlobHelper.createDateBasedPath(sourceCreationDate, sourceName); + AzureBlobHelper.createDateBasedPath( + sourceCreationDate, testTypeAndSourceName); + 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(); 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..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 final String FILES_PATH = "../examples/Test/Automated/"; private static final String EXTENSION = "hl7"; private static final FileFetcher INSTANCE = new LocalFileFetcher(); @@ -28,7 +26,11 @@ public static FileFetcher getInstance() { @Override public List fetchFiles() { - try (Stream stream = Files.walk(Paths.get(FILES_PATH))) { + 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) .filter(path -> path.toString().endsWith(EXTENSION)) .map( 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 new file mode 100644 index 000000000..f54c664c0 --- /dev/null +++ b/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenCopyTest.groovy @@ -0,0 +1,77 @@ +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.external.hapi.HapiHL7Message +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 + +class GoldenCopyTest extends Specification { + + List azureFiles + List localFiles + HapiHL7FileMatcher fileMatcher + Logger mockLogger = Mock(Logger) + List loggedErrorsAndWarnings = [] + List failedFiles = [] + + def setup() { + fileMatcher = HapiHL7FileMatcher.getInstance() + + TestApplicationContext.reset() + TestApplicationContext.init() + 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() + } + + def cleanup() { + for (HL7FileStream fileStream : localFiles + azureFiles) { + fileStream.inputStream().close() + } + } + + def "Compare files"() { + // Currently reusing automated staging test workflows but we might need to pivot for cron schedule + + given: + def matchedFiles = fileMatcher.matchFiles(azureFiles, localFiles) + + when: + for (filePair in matchedFiles) { + def actualFile = filePair.getKey() + def expectedFile = filePair.getValue() + if (!actualFile.equals(expectedFile)) { + failedFiles.add(expectedFile) + } + } + + then: + assert failedFiles.isEmpty() + if (!loggedErrorsAndWarnings.isEmpty()) { + throw new AssertionError("Unexpected errors and/or warnings were logged:\n- ${loggedErrorsAndWarnings.join('\n- ')}") + } + } +} 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]