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: BRCA 基因檢測資訊

狀態:final

流水號:11450100101120250601220251212

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-gene-min

基因定序儀型號Device/dev-min

基因檢測日期:2024-01-01

基因檢測項目:BRCA1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal (LOINC#21636-6)

基因檢測列表:EGFR (HGNC Gene ID#HGNC:3236)

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

基因突變類型:Deletion LOINC-基因突變類型值集#LA6692-3)

DNA變異 (c.HGVS):NM_005228.4:c.2573T>G (HGVS Gene Code)

基因組DNA變異 (gHGVS):NC_000007.13:g.55259515T>G (HGVS Gene Code)

基因變異的精確起始與終止位置:96521657-96521657