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 - XML Representation

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<Observation xmlns="http://hl7.org/fhir">
  <id value="obs-diagnostic-min"/>
  <meta>
    <profile
             value="https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Observation-twngs"/>
  </meta>
  <text>
    <status value="generated"/>
    <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>
  </text>
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    <value value="101202401021"/>
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  <status value="final"/>
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  <code>
    <coding>
      <system value="http://loinc.org"/>
      <code value="69548-6"/>
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  <subject>🔗 
    <reference value="Patient/pat-min"/>
  </subject>
  <effectiveDateTime value="2024-01-01"/>
  <performer>🔗 
    <reference value="Organization/org-gene-min"/>
  </performer>
  <valueCodeableConcept>
    <coding>
      <system value="http://loinc.org"/>
      <code value="LA9633-4"/>
      <display value="Present"/>
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  </valueCodeableConcept>
  <interpretation>
    <coding>
      <system
              value="http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation"/>
      <code value="POS"/>
      <display value="Positive"/>
    </coding>
  </interpretation>
  <method>
    <coding>
      <system value="http://loinc.org"/>
      <code value="LA26398-0"/>
      <display value="Sequencing"/>
    </coding>
  </method>
  <specimen>🔗 
    <reference value="Specimen/spe-min"/>
  </specimen>
  <device>🔗 
    <reference value="Device/dev-min"/>
  </device>
  <derivedFrom>🔗 
    <reference value="DocumentReference/doc-gene-min"/>
  </derivedFrom>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="81247-9"/>
        <display value="Master HL7 genetic variant reporting panel"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://loinc.org"/>
        <code value="21636-6"/>
        <display
                 value="BRCA1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal"/>
      </coding>
    </valueCodeableConcept>
    <interpretation>
      <coding>
        <system value="http://loinc.org"/>
        <code value="LA6692-3"/>
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  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48004-6"/>
        <display value="DNA change (c.HGVS)"/>
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    <valueCodeableConcept>
      <coding>
        <system value="http://varnomen.hgvs.org"/>
        <code value="NM_005228.4:c.2573T&gt;G"/>
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    <interpretation>
      <coding>
        <system value="http://loinc.org"/>
        <code value="LA6692-3"/>
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  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48018-6"/>
        <display value="Gene studied [ID]"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://www.genenames.org"/>
        <code value="HGNC:3236"/>
        <display value="EGFR"/>
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    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48018-6"/>
        <display value="Gene studied [ID]"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://www.genenames.org"/>
        <code value="#HGNC:1100"/>
        <display value="BRCA1"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="81290-9"/>
        <display value="Genomic DNA change (gHGVS)"/>
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    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://varnomen.hgvs.org"/>
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  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
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        <display value="Genomic allele start-end"/>
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        <value value="96521657"/>
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      <high>
        <value value="96521657"/>
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</Observation>