This page is part of the Genetic Reporting Implementation Guide (v1.0.0: STU 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, using GLStrings - XML Representation

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Raw xml

<Observation xmlns="http://hl7.org/fhir">
  <id value="genotype-hla-a-glstring-r4"/>
  <meta>
    <profile
             value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"/>
  </meta>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml">
            <pre>
HLA-A genotyping for sample 123456789
HLA-A*03:01:01:01+HLA-A*30:01:01</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>
  <status value="final"/>
  <category>
    <coding>
      <system value="http://terminology.hl7.org/CodeSystem/observation-category"/>
      <code value="laboratory"/>
    </coding>
  </category>
  <code>
    <coding>
      <system value="http://loinc.org"/>
      <code value="84413-4"/>
      <display value="Genotype display name"/>
    </coding>
    <coding>
      <system value="http://loinc.org"/>
      <code value="57290-9"/>
      <display value="HLA-A [Type] by High resolution"/>
    </coding>
  </code>
  <effectiveDateTime value="2018-07-26"/>
  <performer>
  <!-- <reference value="http://example.org/r4/Oranization/f345"/> -->
    <type value="Organization"/>
    <display value="aTypingLab, Inc"/>
  </performer>
  <valueCodeableConcept>
    <coding>
      <system value="http://glstring.org"/>
      <version value="1.0"/>
      <code value="hla#3.31.0#HLA-A*03:01:01:01+HLA-A*30:01:01"/>
    </coding>
  </valueCodeableConcept>
  <method>
    <text value="PACBIO Sequel"/>
  </method>
  <specimen>
  <!-- <reference value="http://example.org/r4/Specimen/f456"/> -->
    <display value="buccal swab: 123456789"/>
  </specimen>
  <derivedFrom>
  <!-- <<reference value="http://example.org/r4/Observation/f567"/> -->
    <type value="Observation"/>
    <display value="HLA-A Allele: HLA-A*03:01:01:01"/>
  </derivedFrom>
  <derivedFrom>
  <!-- <<reference value="Observation/f568"/> -->
    <type value="Observation"/>
    <display value="HLA-A Allele: HLA-A*30:01:01"/>
  </derivedFrom>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48018-6"/>
        <display value="Gene studied [ID]"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://www.genenames.org/geneId"/>
        <code value="HGNC:4931"/>
        <display value="HLA-A"/>
      </coding>
    </valueCodeableConcept>
  </component>
</Observation>