臺灣次世代基因定序檢測實作指引
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: obs-variant-min - XML Representation

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<Observation xmlns="http://hl7.org/fhir">
  <id value="obs-variant-min"/>
  <meta>
    <profile
             value="http://example.org/StructureDefinition/Observation-variant-twngs"/>
  </meta>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: Observation obs-variant-min</b></p><a name="obs-variant-min"> </a><a name="hcobs-variant-min"> </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-Observation-variant-twngs.html">短序列DNA變異資訊-Observation Variant TWNGS</a></p></div><p><b>status</b>: Final</p><p><b>code</b>: <span title="Codes:{http://loinc.org 69548-6}">Genetic variant assessment</span></p><p><b>subject</b>: <a href="Patient-pat-min.html">王大明 Male, DoB: 2001-01-01 ( Medical record number (use: official, ))</a></p><p><b>effective</b>: 2024-01-01</p><p><b>specimen</b>: <a href="Specimen-spe-bld-min.html">Specimen: identifier = 123-4567; type = Bld</a></p><p><b>device</b>: <a href="Device-dev-min.html">Device: modelNumber = HiSeq 4000 System</a></p><p><b>derivedFrom</b>: <a href="DocumentReference-doc-gene-min.html">DocumentReference: status = current</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://example.org/CodeSystem/genomic-variant-cs transcriptDB}">轉錄本資料庫名稱</span></p><p><b>value</b>: RefSeq</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://example.org/CodeSystem/genomic-variant-cs transcriptDBVersion}">轉錄本參考資料庫版本</span></p><p><b>value</b>: 115</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 51958-7}">Transcript reference sequence [ID]</span></p><p><b>value</b>: NM_000038.6</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48004-6}">DNA change (c.HGVS)</span></p><p><b>value</b>: c.4393_4394del</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48018-6}">Gene studied [ID]</span></p><p><b>value</b>: APC</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48005-3}">Amino acid change (pHGVS)</span></p><p><b>value</b>: p.Ser1465fs</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81258-6}">Sample variant allelic frequency [NFr]</span></p><p><b>value</b>: 48.9 %<span style="background: LightGoldenRodYellow"> (Details: UCUM  code% = '%')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48019-4}">DNA change type</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA6692-3}">Deletion</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48013-7}">Genomic reference sequence [ID]</span></p><p><b>value</b>: NC_000005.10</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81290-9}">Genomic DNA change (gHGVS)</span></p><p><b>value</b>: g.112839979_112839980del</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://example.org/CodeSystem/genomic-variant-cs proteinRefId}">蛋白質參考序列編號</span></p><p><b>value</b>: NP_000029.2</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://example.org/CodeSystem/genomic-variant-cs aminoAcidChangeType}">胺基酸變異類型</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA6694-9}">Frameshift</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 82121-5}">Allelic read depth</span></p><p><b>value</b>: 440</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://example.org/CodeSystem/genomic-variant-cs totalReadDepth}">變異區測序總讀數</span></p><p><b>value</b>: 900</p></blockquote></div>
  </text>
  <status value="final"/>
  <code>
    <coding>
      <system value="http://loinc.org"/>
      <code value="69548-6"/>
    </coding>
  </code>
  <subject>🔗 
    <reference value="Patient/pat-min"/>
  </subject>
  <effectiveDateTime value="2024-01-01"/>
  <specimen>🔗 
    <reference value="Specimen/spe-bld-min"/>
  </specimen>
  <device>🔗 
    <reference value="Device/dev-min"/>
  </device>
  <derivedFrom>🔗 
    <reference value="DocumentReference/doc-gene-min"/>
  </derivedFrom>
  <component>
    <code>
      <coding>
        <system value="http://example.org/CodeSystem/genomic-variant-cs"/>
        <code value="transcriptDB"/>
      </coding>
    </code>
    <valueString value="RefSeq"/>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://example.org/CodeSystem/genomic-variant-cs"/>
        <code value="transcriptDBVersion"/>
      </coding>
    </code>
    <valueString value="115"/>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="51958-7"/>
      </coding>
    </code>
    <valueString value="NM_000038.6"/>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48004-6"/>
      </coding>
    </code>
    <valueString value="c.4393_4394del"/>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48018-6"/>
      </coding>
    </code>
    <valueString value="APC"/>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48005-3"/>
      </coding>
    </code>
    <valueString value="p.Ser1465fs"/>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="81258-6"/>
      </coding>
    </code>
    <valueQuantity>
      <value value="48.9"/>
      <unit value="%"/>
      <system value="http://unitsofmeasure.org"/>
      <code value="%"/>
    </valueQuantity>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48019-4"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://loinc.org"/>
        <code value="LA6692-3"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48013-7"/>
      </coding>
    </code>
    <valueString value="NC_000005.10"/>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="81290-9"/>
      </coding>
    </code>
    <valueString value="g.112839979_112839980del"/>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://example.org/CodeSystem/genomic-variant-cs"/>
        <code value="proteinRefId"/>
      </coding>
    </code>
    <valueString value="NP_000029.2"/>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://example.org/CodeSystem/genomic-variant-cs"/>
        <code value="aminoAcidChangeType"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://loinc.org"/>
        <code value="LA6694-9"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="82121-5"/>
      </coding>
    </code>
    <valueQuantity>
      <value value="440"/>
    </valueQuantity>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://example.org/CodeSystem/genomic-variant-cs"/>
        <code value="totalReadDepth"/>
      </coding>
    </code>
    <valueQuantity>
      <value value="900"/>
    </valueQuantity>
  </component>
</Observation>