This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions
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<div xmlns="http://www.w3.org/1999/xhtml"><h2><span title="Codes: {http://loinc.org 51969-4}">Genetic analysis report</span> (<span title="Codes: {http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span>) </h2><table class="grid"><tr><td>When For</td><td>2023-02-02</td></tr><tr><td>Identifier:</td><td> Accession ID: 23-0000345</td></tr></table><p><b>Report Details</b></p><table class="grid"><tr><td><b>Code</b></td><td><b>Value</b></td><td><b>Note</b></td><td><b>When For</b></td><td><b>Reported</b></td></tr><tr><td><a href="Observation-overallInt.html"><span title="Codes: {http://loinc.org 51968-6}">Discrete variation analysis overall interpretation</span></a></td><td><span title="Codes: {http://loinc.org LA6576-8}">Positive</span></td><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-NOTCH1-uncertain-var.html"><span title="Codes: {http://loinc.org 69548-6}">Genetic variant assessment</span></a></td><td><span title="Codes: {http://loinc.org LA9633-4}">Present</span></td><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-ZFHX3-uncertain-var.html"><span title="Codes: {http://loinc.org 69548-6}">Genetic variant assessment</span></a></td><td><span title="Codes: {http://loinc.org LA9633-4}">Present</span></td><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-MSH2-del-var.html"><span title="Codes: {http://loinc.org 69548-6}">Genetic variant assessment</span></a></td><td><span title="Codes: {http://loinc.org LA9633-4}">Present</span></td><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-NTHL1-snv-var.html"><span title="Codes: {http://loinc.org 69548-6}">Genetic variant assessment</span></a></td><td><span title="Codes: {http://loinc.org LA9633-4}">Present</span></td><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-STAG2-insertion-var.html"><span title="Codes: {http://loinc.org 69548-6}">Genetic variant assessment</span></a></td><td><span title="Codes: {http://loinc.org LA9633-4}">Present</span></td><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-ATR-insertion-var.html"><span title="Codes: {http://loinc.org 69548-6}">Genetic variant assessment</span></a></td><td><span title="Codes: {http://loinc.org LA9633-4}">Present</span></td><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-EGFR-L858R-var.html"><span title="Codes: {http://loinc.org 69548-6}">Genetic variant assessment</span></a></td><td><span title="Codes: {http://loinc.org LA9633-4}">Present</span></td><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-ROS1-Fusion-var.html"><span title="Codes: {http://loinc.org 69548-6}">Genetic variant assessment</span></a></td><td><span title="Codes: {http://loinc.org LA9633-4}">Present</span></td><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-NOTCH1-significance.html"><span title="Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}">Diagnostic Implication</span></a></td><td/><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-ZFHX3-significance.html"><span title="Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}">Diagnostic Implication</span></a></td><td/><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-MSH2-del-disease.html"><span title="Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}">Diagnostic Implication</span></a></td><td/><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-NTHL1-snv-disease.html"><span title="Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}">Diagnostic Implication</span></a></td><td/><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-STAG2-insertion-significance.html"><span title="Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}">Diagnostic Implication</span></a></td><td/><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-ATR-insertion-significance.html"><span title="Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}">Diagnostic Implication</span></a></td><td/><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-EGFR-L858R-significance.html"><span title="Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}">Diagnostic Implication</span></a></td><td/><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-ROS1-Fusion-disease.html"><span title="Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}">Diagnostic Implication</span></a></td><td/><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-ROS1-Fusion-therapuTrial.html"><span title="Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}">Therapeutic Implication</span></a></td><td/><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-ROS1-Fusion-therapuDrug.html"><span title="Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}">Therapeutic Implication</span></a></td><td/><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-EGFR-L858R-therapuDrug1.html"><span title="Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}">Therapeutic Implication</span></a></td><td/><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-EGFR-L858R-therapuDrug2.html"><span title="Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}">Therapeutic Implication</span></a></td><td/><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-TMB-therapuDrug.html"><span title="Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}">Therapeutic Implication</span></a></td><td/><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-NOTCH1-uncertain-molc.html"><span title="Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs molecular-consequence}">Molecular Consequence</span></a></td><td/><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-ZFHX3-uncertain-molc.html"><span title="Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs molecular-consequence}">Molecular Consequence</span></a></td><td/><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-MSH2-del-molc.html"><span title="Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs molecular-consequence}">Molecular Consequence</span></a></td><td/><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-NTHL1-snv-molc.html"><span title="Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs molecular-consequence}">Molecular Consequence</span></a></td><td/><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-STAG2-insertion-molc.html"><span title="Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs molecular-consequence}">Molecular Consequence</span></a></td><td/><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-ATR-insertion-molc.html"><span title="Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs molecular-consequence}">Molecular Consequence</span></a></td><td/><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-EGFR-L858R-molc.html"><span title="Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs molecular-consequence}">Molecular Consequence</span></a></td><td/><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-ROS1-Fusion.html"><span title="Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs molecular-consequence}">Molecular Consequence</span></a></td><td/><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-TMBExample.html"><span title="Codes: {http://loinc.org 94076-7}">Mutations/Megabase [# Ratio] in Tumor</span></a></td><td>29.8</td><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-MSIExample.html"><span title="Codes: {http://loinc.org 81695-9}">Microsatellite instability [Interpretation] in Cancer specimen Qualitative</span></a></td><td><span title="Codes: {http://loinc.org LA26203-2}">MSI-H</span></td><td/><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-PDL1Example.html"><span title="Codes: {http://loinc.org 85147-7}">PD-L1 by clone 22C3 in Tissue by Immune stain Report</span></a></td><td><span title="Codes: {http://loinc.org LA6576-8}">Positive</span></td><td>5% tumor proportion score</td><td>2023-02-01</td><td/></tr><tr><td><a href="Observation-HLA-A-haplotype1.html"><span title="Codes: {http://loinc.org 84414-2}">Haplotype Name</span></a></td><td><span title="Codes: {http://www.ebi.ac.uk/ipd/imgt/hla A*24:02}">HLA-A*24:02</span></td><td/><td>2023-02-01</td><td>2023-02-01 00:00:00-0500</td></tr><tr><td><a href="Observation-HLA-A-haplotype2.html"><span title="Codes: {http://loinc.org 84414-2}">Haplotype Name</span></a></td><td><span title="Codes: {http://www.ebi.ac.uk/ipd/imgt/hla A*02:06}">HLA-A*02:06</span></td><td/><td>2023-02-01</td><td>2023-02-01 00:00:00-0500</td></tr><tr><td><a href="Observation-HLA-B-haplotype1.html"><span title="Codes: {http://loinc.org 84414-2}">Haplotype Name</span></a></td><td><span title="Codes: {http://www.ebi.ac.uk/ipd/imgt/hla B*35:01}">HLA-B*35:01</span></td><td/><td>2023-02-01</td><td>2023-02-01 00:00:00-0500</td></tr><tr><td><a href="Observation-HLA-B-haplotype2.html"><span title="Codes: {http://loinc.org 84414-2}">Haplotype Name</span></a></td><td><span title="Codes: {http://www.ebi.ac.uk/ipd/imgt/hla B*35:01}">HLA-B*35:01</span></td><td/><td>2023-02-01</td><td>2023-02-01 00:00:00-0500</td></tr><tr><td><a href="Observation-HLA-C-haplotype1.html"><span title="Codes: {http://loinc.org 84414-2}">Haplotype Name</span></a></td><td><span title="Codes: {http://www.ebi.ac.uk/ipd/imgt/hla C*03:03}">HLA-C*03:03</span></td><td/><td>2023-02-01</td><td>2023-02-01 00:00:00-0500</td></tr><tr><td><a href="Observation-HLA-C-haplotype2.html"><span title="Codes: {http://loinc.org 84414-2}">Haplotype Name</span></a></td><td><span title="Codes: {http://www.ebi.ac.uk/ipd/imgt/hla C*15:02}">HLA-C*15:02</span></td><td/><td>2023-02-01</td><td>2023-02-01 00:00:00-0500</td></tr></table></div>
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IG © 2022+ HL7 International / Clinical Genomics. Package hl7.fhir.uv.genomics-reporting#3.0.0-ballot based on FHIR 4.0.1. Generated 2023-12-18
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