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 in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

: Lung adenocarcinoma 基因檢測資訊 - XML Representation

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<Observation xmlns="http://hl7.org/fhir">
  <id value="obs-lung-min"/>
  <meta>
    <profile
             value="https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Observation-twngs"/>
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  <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-lung-min.html">Specimen/spe-lung-min</a></p><p><b>基因報告</b>：<a href="DocumentReference-doc-lung-min.html">DocumentReference/doc-lung-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>：2024-07-17</p><blockquote><p>基因檢測項目：FGFR2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki">(<a href="http://loinc.org/">LOINC</a>#38412-3)</span></p><p>基因檢測列表：EGFR、FGFR2、TP53、U2AF1、BCORL1、CIC、CREBBP、EPHB4、FLT1 <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki">(<a href="http://www.genenames.org/">HGNC Gene ID</a>)</span></p><span/><p><b>DNA 變異列表 (c.HGVS)</b></p><ul><li>NM_021946.4:c.4171G&gt;A (BCORL1) — Substitution</li><li>NM_015125.4:c.496C&gt;T (CIC) — Substitution</li><li>NM_004380.2:c.833A&gt;C (CREBBP) — Substitution</li><li>NM_004444.4:c.2578G&gt;C (EPHB4) — Substitution</li></ul></blockquote></div>
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  <subject>🔗 
    <reference value="Patient/pat-min"/>
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  <effectiveDateTime value="2024-07-17"/>
  <performer>🔗 
    <reference value="Organization/org-gene-min"/>
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    <coding>
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      <code value="LA9633-4"/>
      <display value="Present"/>
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  <interpretation>
    <coding>
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      <code value="POS"/>
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  <method>
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      <system value="http://loinc.org"/>
      <code value="LA26398-0"/>
      <display value="Sequencing"/>
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  </method>
  <specimen>🔗 
    <reference value="Specimen/spe-lung-min"/>
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  <device>🔗 
    <reference value="Device/dev-min"/>
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  <derivedFrom>🔗 
    <reference value="DocumentReference/doc-lung-min"/>
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    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="81247-9"/>
        <display value="Master HL7 genetic variant reporting panel"/>
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      <coding>
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        <code value="38412-3"/>
        <display
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    <interpretation>
      <coding>
        <system value="http://loinc.org"/>
        <code value="LA6692-3"/>
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    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48018-6"/>
        <display value="Gene studied [ID]"/>
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    <valueCodeableConcept>
      <coding>
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        <code value="HGNC:25657"/>
        <display value="BCORL1"/>
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  <component>
    <code>
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        <code value="48018-6"/>
        <display value="Gene studied [ID]"/>
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    <interpretation>
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        <display value="DNA change (c.HGVS)"/>
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        <code value="NM_004380.2:c.833A&gt;C"/>
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    <interpretation>
      <coding>
        <system value="http://loinc.org"/>
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</Observation>