臺灣次世代基因定序檢測實作指引
1.0.0 - STU1.0.0
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
Profile: 基因資訊-Observation TWNGS
狀態：final
類型：Laboratory (Observation Category Codes#laboratory)
項目：Genetic variant assessment (LOINC#69548-6)
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