Genomics Reporting Implementation Guide
1.1.0 - Ballot

This page is part of the Genetic Reporting Implementation Guide (v1.1.0: STU 2 Ballot 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

: Example - HLA genotyping for HLA-A, HLA-B, and HLA-C, using GLStrings - XML Representation

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<DiagnosticReport xmlns="http://hl7.org/fhir">
  <id value="diagnosticreport-hla-glstring-r4"/>
  <meta>
    <profile
             value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-report"/>
  </meta>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml">
            <pre>
HLA-A,-B,-C genotyping report for sample-id=123456789

LOCUS   ALLELE ASSIGNMENT
HLA-A   HLA-A*03:01:01:01
        HLA-A*30:01:01

HLA-B   HLA-B*15:01:01:01
        HLA-B*40:01:02:01/HLA-B*40:01:02:02/HLA-B*40:01:02:04/HLA-B*40:01:02:06

HLA-C   HLA-C*07:04:01:01/HLA-C*07:04:01:03
        HLA-C*12:03:01:01/HLA-C*12:03:01:06

Allele assignments based on IMGT/HLA 3.31.0
Effective date: 2018-07-26

Lab: aTypingLab Inc
           </pre>
        </div>
  </text>
  <basedOn>
  <!-- <reference value="http://example.org/r4/ServiceRequest/f123"/> -->
    <display value="Sequence-based typing of HLA-A for sample-id=123456789"/>
  </basedOn>
  <basedOn>
  <!--  <reference value="http://example.org/r4/ServiceRequest/f124"/> -->
    <display value="Sequence-based typing of HLA-B for sample-id=123456789"/>
  </basedOn>
  <basedOn>
  <!--  <reference value="http://example.org/r4/ServiceRequest/f125"/> -->
    <display value="Sequence-based typing of HLA-C for sample-id=123456789"/>
  </basedOn>
  <status value="final"/>
  <category>
    <coding>
      <system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
      <code value="GE"/>
      <display value="Genetics"/>
    </coding>
  </category>
  <code>
    <coding>
      <system value="http://loinc.org"/>
      <code value="81247-9"/>
      <display value="Master HL7 genetic variant reporting panel"/>
    </coding>
    <coding>
      <system value="http://genenames.org/geneId"/>
      <code value="588"/>
      <display value="Histocompatibility complex (HLA)"/>
    </coding>
  </code>
  <effectiveDateTime value="2018-07-26"/>
  <performer>
  <!-- <reference value="http://example.org/r4/Oranization/f345"/> -->
    <display value="aTypingLab, Inc"/>
  </performer>
  <specimen>
  <!--  <reference value="http://example.org/r4/Specimen/f456"/> -->
    <display value="buccal swab: 123456789"/>
  </specimen>
  <result>
  <!-- <reference value="http://example.org/r4/Observation/f234"/> -->
    <type value="Observation"/>
    <display value="HLA-A genotype: HLA-A:01:01:01G+HLA-A*01:02"/>
  </result>
  <result>
  <!-- <reference value="http://example.org/r4/Observation/f235"/> -->
    <type value="Observation"/>
    <display
             value="HLA-B genotype: HLA-B*15:01:01:01+HLA-B*40:01:02:01/HLA-B*40:01:02:02/HLA-B*40:01:02:04/HLA-B*40:01:02:06"/>
  </result>
  <result>
  <!-- <reference value="http://example.org/r4/Observation/f236"/> -->
    <type value="Observation"/>
    <display
             value="HLA-C genotype: HLA-C*07:04:01:01/HLA-C*07:04:01:03+HLA-C*12:03:01:01/HLA-C*12:03:01:06"/>
  </result>
</DiagnosticReport>