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" : "<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>A (BCORL1) — Substitution</li><li>NM_015125.4:c.496C>T (CIC) — Substitution</li><li>NM_004380.2:c.833A>C (CREBBP) — Substitution</li><li>NM_004444.4:c.2578G>C (EPHB4) — Substitution</li></ul></blockquote></div>"
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