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
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<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-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:TP53 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>#21739-8)</span></p><p>基因檢測列表:TP53、KEAP1、KRAS、MTAP、CDKN2A、CDKN2B、ATR、FLT1、NOTCH2、PDGFRA、PMS2、PRDM1、RAC1、RET、ALK、BRAF、EGFR、ERBB2、MET、ROS1 <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki">(<a href="http://www.genenames.org/">HGNC Gene ID</a>)</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><span/><p><b>DNA 變異列表 (c.HGVS)</b></p><ul><li>NM_001184.3:c.4408G>A (APC) — Substitution</li><li>NM_001184.3:c.2503T>G (APC) — Substitution</li><li>NM_024408.3:c.5403G>T (ARID1A) — Substitution</li><li>NM_006206.4:c.1319C>T (ASXL1) — Substitution</li><li>NM_001198.3:c.1214C>G (ATM) — Substitution</li><li>NM_020975.4:c.874G>A (ATRX) — Substitution</li></ul></blockquote></div>
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