臺灣次世代基因定序檢測實作指引
1.0.1 - ci-build

臺灣次世代基因定序檢測實作指引, published by 衛生福利部中央健康保險署. This guide is not an authorized publication; it is the continuous build for version 1.0.1 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/TWNHIFHIR/ngs/ and changes regularly. See the Directory of published versions

Example Observation: Lung adenocarcinoma 基因檢測資訊

狀態：final

流水號：11450100101220250601220251212

類型：Laboratory (Observation Category Codes#laboratory)

項目：Genetic variant assessment (LOINC#69548-6)

病人：Patient/pat-min

基因檢測機構：Organization 2023LDTB0002

基因臨床判讀結果：Positive (ObservationInterpretationCodes #POS)

基因檢測方法：Sequencing (LOINC Answer List LL4048-6 #LA26398-0)

基因檢測檢體類型：Specimen/spe-lung-min

基因報告：DocumentReference/doc-lung-min

基因定序儀型號：Device/dev-min

基因檢測日期：2024-07-17

基因檢測項目：FGFR2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method (LOINC#38412-3)

基因檢測列表：EGFR、FGFR2、TP53、U2AF1、BCORL1、CIC、CREBBP、EPHB4、FLT1 (HGNC Gene ID)

DNA 變異列表 (c.HGVS)

  • NM_021946.4:c.4171G>A (BCORL1) — Substitution
  • NM_015125.4:c.496C>T (CIC) — Substitution
  • NM_004380.2:c.833A>C (CREBBP) — Substitution
  • NM_004444.4:c.2578G>C (EPHB4) — Substitution