臺灣次世代基因定序檢測實作指引
1.0.0 - STU1.0.0

This page is part of the 臺灣次世代基因定序檢測實作指引 (v1.0.0: STU1.0.0) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions

: BRCA 基因檢測資訊 - JSON Representation

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{
  "resourceType" : "Observation",
  "id" : "obs-diagnostic-min",
  "meta" : {
    "profile" : [
      🔗 "https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Observation-twngs"
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    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><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\">Profile: <a href=\"StructureDefinition-Observation-twngs.html\">基因資訊-Observation TWNGS</a></p></div><p><b>狀態</b>：final</p><p><b>類型</b>：Laboratory<span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/CodeSystem/observation-category\">Observation Category Codes</a>#laboratory)</span></p><p><b>項目</b>：Genetic variant assessment<span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://loinc.org/\">LOINC</a>#69548-6)</span></p><p><b>病人</b>：<a href=\"Patient-pat-min.html\">Patient/pat-min</a></p><p><b>基因檢測機構</b>：<a href=\"Organization-org-gene-min.html\">Organization 2023LDTB0002</a></p><p><b>基因臨床判讀結果</b>：Positive <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\">(<a href=\"http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation/\">ObservationInterpretationCodes </a>#POS)</span></p><p><b>基因檢測方法</b>：Sequencing<span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://loinc.org/\">LOINC Answer List LL4048-6 </a>#LA26398-0)</span></p><p><b>基因檢測檢體類型</b>：<a href=\"Specimen-spe-min.html\">Specimen/spe-min</a></p><p><b>基因報告</b>：<a href=\"DocumentReference-doc-gene-min.html\">DocumentReference/doc-gene-min</a></p><p><b>基因定序儀型號</b>：<a href=\"Device-dev-min.html\">Device/dev-min</a></p><p><b>基因檢測日期</b>：2024-01-01</p><blockquote><p>基因檢測項目：BRCA1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\">(<a href=\"http://loinc.org/\">LOINC</a>#21636-6)</span></p><p>基因檢測列表：EGFR <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\">(<a href=\"http://www.genenames.org/\">HGNC Gene ID</a>#HGNC:3236)</span></p><p><b>基因檢測分析結果</b>：Present <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\">(<a href=\"http://loinc.org/\">LOINC Answer List LL1971-2 </a>#LA9633-4)</span></p><p><b>基因突變類型</b>：Deletion <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\">（ <a href=\"http://loinc.org/\">LOINC-基因突變類型值集</a>#LA6692-3）</span></p><p>DNA變異 (c.HGVS)：NM_005228.4:c.2573T&gt;G<span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://varnomen.hgvs.org/\">HGVS Gene Code</a>)</span></p><p>基因組DNA變異 (gHGVS)：NC_000007.13:g.55259515T&gt;G<span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://varnomen.hgvs.org/\">HGVS Gene Code</a>)</span></p><p>基因變異的精確起始與終止位置：96521657-96521657</p></blockquote></div>"
  },
  "identifier" : [
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  "subject" : {
    🔗 "reference" : "Patient/pat-min"
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  "effectiveDateTime" : "2024-01-01",
  "performer" : [
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      🔗 "reference" : "Organization/org-gene-min"
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  "method" : {
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        "code" : "LA26398-0",
        "display" : "Sequencing"
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  "specimen" : {
    🔗 "reference" : "Specimen/spe-min"
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  "device" : {
    🔗 "reference" : "Device/dev-min"
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  "derivedFrom" : [
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      🔗 "reference" : "DocumentReference/doc-gene-min"
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  "component" : [
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      "code" : {
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            "display" : "Master HL7 genetic variant reporting panel"
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      "interpretation" : [
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      "code" : {
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    {
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            "display" : "Genomic allele start-end"
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}