NHS North West Genomics
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: Molecular Consequence - Loss of Heterozygosity (BRCA1)

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{
  "resourceType" : "Observation",
  "id" : "ctdna9737383222-seqv1-loh",
  "meta" : {
    "profile" : [
      🔗 "https://fhir.nwgenomics.nhs.uk/StructureDefinition/MolecularConsequence"
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  "language" : "en",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation ctdna9737383222-seqv1-loh</b></p><a name=\"ctdna9737383222-seqv1-loh\"> </a><a name=\"hcctdna9737383222-seqv1-loh\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-MolecularConsequence.html\">Molecular Consequence (Observation)</a></p></div><p><b>identifier</b>: ctdna9737383222-seqv1-loh</p><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs molecular-consequence}\">Molecular Consequence</span></p><p><b>subject</b>: <a href=\"Patient-Patient-Leeds.html\">Rob LEEDS (official) Male, DoB: 1978-01-17 ( Medical record number)</a></p><p><b>effective</b>: 2026-07-14 15:59:16+0000</p><p><b>performer</b>: <a href=\"PractitionerRole-59577028-8fcc-4554-8b43-988561d41d9c.html\">PractitionerRole</a></p><p><b>derivedFrom</b>: <a href=\"Observation-ctdna9737383222-seqv1.html\">Observation Genetic variant assessment</a></p><h3>Components</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs functional-effect}\">Functional Effect</span></td><td><span title=\"Codes:{http://www.sequenceontology.org SO_0001786}\">loss_of_heterozygosity</span></td></tr></table></div>"
  },
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          "code" : "GE",
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          "code" : "laboratory"
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  ],
  "code" : {
    "coding" : [
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        "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
        "code" : "molecular-consequence"
      }
    ]
  },
  "subject" : {
    🔗 "reference" : "Patient/Patient-Leeds"
  },
  "effectiveDateTime" : "2026-07-14T15:59:16+00:00",
  "performer" : [
    {
      🔗 "reference" : "PractitionerRole/59577028-8fcc-4554-8b43-988561d41d9c"
    }
  ],
  "derivedFrom" : [
    {
      🔗 "reference" : "Observation/ctdna9737383222-seqv1"
    }
  ],
  "component" : [
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      "code" : {
        "coding" : [
          {
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            "code" : "functional-effect"
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        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://www.sequenceontology.org",
            "code" : "SO_0001786",
            "display" : "loss_of_heterozygosity"
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