臺灣次世代基因定序檢測實作指引
0.1.0 - ci-build
臺灣次世代基因定序檢測實作指引 - Local Development build (v0.1.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
Profile: 基因生物標記資訊-Observation Biomarker TWNGS
status: Final
code: Biomarker
subject: 王大明 Male, DoB: 2001-01-01 ( Medical record number (use: official, ))
effective: 2024-01-01
note:
HRD (Homologous Recombination Deficiency)-high HLA LOH (Human Leukocyte Antigen Loss of Heterozygosity) -HLA-A loss
specimen: Specimen: identifier = 123-4567; type = Bld
device: Device: modelNumber = HiSeq 4000 System
derivedFrom: DocumentReference: status = current
component
code: MSI Score
value: 30 % (Details: UCUM code% = '%')
component
code: Microsatellite instability [Interpretation] in Cancer specimen Qualitative
value: MSI-H
component
code: Mutations/Megabase [# Ratio] in Tumor
value: 10 Muts/Mb
component
code: Tumor mutation burden [Interpretation]
value: Low