<Observation xmlns="http://hl7.org/fhir">
  <id value="core-examples-Observation-example30" />
  <meta>
    <versionId value="1" />
    <lastUpdated value="2016-09-08T11:58:28.758+00:00" />
  </meta>
  <text>
    <status value="generated" />
    <div xmlns="http://www.w3.org/1999/xhtml">
      <p>
        <b>Generated Narrative with Details</b>
      </p>
      <p>
        <b>id</b>: genetics-example2-germline</p>
      <p>
        <b>status</b>: final</p>
      <p>
        <b>code</b>: BRCA1 gene mutation analysis <span>(Details : {LOINC code '21636-6' = 'BRCA1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal', given as 'BRCA1 gene mutation analysis'})</span></p>
      <p>
        <b>subject</b>: <a>Molecular Lab Patient ID: HOSP-23456</a></p>
      <p>
        <b>performer</b>: <a>Molecular Diagnostic Laboratory</a></p>
      <p>
        <b>specimen</b>: <a>Molecular Specimen ID: MLD45-Z4-1234</a></p>
    </div>
  </text>
  <extension url="http://hl7.org/fhir/StructureDefinition/geneticsGenomeBuild">
    <valueString value="GRCh 37" />
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/geneticsChromosome">
    <valueCodeableConcept>
      <coding>
        <system value="http://www.ncbi.nlm.nih.gov/gene" />
        <code value="NC_000017" />
      </coding>
      <text value="Homo sapiens chromosome 17" />
    </valueCodeableConcept>
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/geneticsGenomicStart">
    <valueInteger value="41258504" />
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/geneticsGenomicStop">
    <valueInteger value="41258505" />
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/geneticsReferenceAllele">
    <valueString value="A" />
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/geneticsObservedAllele">
    <valueString value="C" />
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/geneticsGene">
    <valueCodeableConcept>
      <coding>
        <system value="http://www.genenames.org/" />
        <code value="1100" />
        <display value="BRCA1" />
      </coding>
    </valueCodeableConcept>
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/geneticsDNASequenceVariation">
    <valueString value="c.181T&gt;G" />
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/geneticsVariationId">
    <valueCodeableConcept>
      <coding>
        <system value="http://www.ncbi.nlm.nih.gov/clinvar" />
        <code value="17661" />
        <display value="c.181T&gt;G" />
      </coding>
    </valueCodeableConcept>
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/geneticsDNARegionName">
    <valueString value="Exon 4" />
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/geneticsDNASequenceVariationType">
    <valueCodeableConcept>
      <coding>
        <system value="http://loinc.org/" />
        <code value="LA6690-7" />
        <display value="Substitution" />
      </coding>
    </valueCodeableConcept>
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/geneticsAminoAcidChange">
    <valueString value="p.Cys61Gly" />
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/geneticsGenomicSourceClass">
    <valueCodeableConcept>
      <coding>
        <system value="http://loinc.org/" />
        <code value="LA6683-2" />
        <display value="Germline" />
      </coding>
    </valueCodeableConcept>
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/geneticsSpecies">
    <valueCodeableConcept>
      <coding>
        <system value="http://snomed.info/sct" />
        <code value="337915000" />
      </coding>
      <text value="Homo sapiens" />
    </valueCodeableConcept>
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/geneticsCIGAR">
    <valueString value="1M" />
  </extension>
  <status value="final" />
  <code>
    <coding>
      <system value="http://loinc.org/" />
      <code value="21636-6" />
      <display value="BRCA1 gene mutation analysis" />
    </coding>
  </code>
  <subject>
    <reference value="Patient/genetics-example2-germline" />
    <display value="Molecular Lab Patient ID: HOSP-23456" />
  </subject>
  <performer>
    <reference value="Practitioner/genetics-example2-germline" />
    <display value="Molecular Diagnostic Laboratory" />
  </performer>
  <specimen>
    <reference value="Specimen/genetics-example2-germline" />
    <display value="Molecular Specimen ID: MLD45-Z4-1234" />
  </specimen>
</Observation>