This page is part of the Genetic Reporting Implementation Guide (v0.3.0: STU 1 Ballot 2) 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 - Observation for a single HLA-A allele - XML Representation

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Raw xml

<Observation xmlns="http://hl7.org/fhir">
<!--  The purpose of this is to link a MolecularSequence to a particular HLA-A allele assignment.  -->
<!--  This resource instance and another for a different HLA-A allele can then be used to construct an HLA-A genotype.  -->
<!--  obs-haplotype is used for HLA alleles because full gene alleles are described as 'named haplotypes' of a series of shorter variants in other genomics domains. -->
  <id value="obs-haplotype-hla-a-1-r4"/>
  <meta>
    <profile
             value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/obs-haplotype"/>
  </meta>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml">
            <pre>Observation for HLA-A*03:01:01:01 allele</pre>
        </div>
  </text>
  <basedOn>
    <reference value="ServiceRequest/f123"/>
    <type value="ServiceRequest"/>
    <display value="Sequence-based typing of HLA-A for sample 001-246802468"/>
  </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="84414-2"/>
      <display value="Haplotype name"/>
    </coding>
  <!--  there is no LOINC code specifically for HLA alleles, so we reuse the code for HLA-A genotypeing  -->
    <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="Organization/f345"/>
    <type value="Organization"/>
    <display value="aTypingLab, Inc"/>
  </performer>
  <valueCodeableConcept>
    <coding>
      <system value="http://www.ebi.ac.uk/ipd/imgt/hla"/>
      <version value="3.31.0"/>
      <code value="HLA-A*03:01:01:01"/>
    </coding>
  </valueCodeableConcept>
  <specimen>
    <reference value="Specimen/f456"/>
    <display value="buccal swab: 123456789"/>
  </specimen>
  <derivedFrom>
    <reference value="MolecularSequence/f567"/>
    <type value="MolecularSequence"/>
    <display value="Sequence for HLA-A*03:01:01:01"/>
  </derivedFrom>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48018-6"/>
        <display value="Gene studied [ID]"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="https://www.genenames.org/"/>
        <code value="HGNC:4931"/>
        <display value="HLA-A"/>
      </coding>
      <text value="HLA-A"/>
    </valueCodeableConcept>
  </component>
</Observation>