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. For a full list of available versions, see the Directory of published versions

Example Observation: Lung non-small cell lung carcinoma (NOS) 基因檢測資訊

狀態：final

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-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：TP53 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal (LOINC#21739-8)

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 (HGNC Gene ID)

基因檢測分析結果：Present (LOINC Answer List LL1971-2 #LA9633-4)

DNA 變異列表 (c.HGVS)

  • NM_001184.3:c.4408G>A (APC) — Substitution
  • NM_001184.3:c.2503T>G (APC) — Substitution
  • NM_024408.3:c.5403G>T (ARID1A) — Substitution
  • NM_006206.4:c.1319C>T (ASXL1) — Substitution
  • NM_001198.3:c.1214C>G (ATM) — Substitution
  • NM_020975.4:c.874G>A (ATRX) — Substitution