<?xml version=“1.0” encoding=“UTF-8”?><Observation xmlns=“hl7.org/fhir”>

<id value="genetics-example2-germline"/>
<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 &#39;21636-6&#39; = &#39;BRCA1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal&#39;, given as &#39;BRCA1 gene mutation analysis&#39;})</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>