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 adenocarcinoma 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-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