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

Example DiagnosticReport: diag-min

XX 癌症基因檢測

Subject王大明 Male, DoB: 2001-01-01 ( Medical record number (use: official, ))
When For2024-05-07
Performer Organization XX檢驗實驗室

Report Details

CodeValueFlagsNoteWhen For
Genetic analysis reportFinal2024-01-01
Genetic variant assessmentFinal2024-01-01
FusionEML4::ALKFinal2024-01-01
Genomic structural variant copy number8 copy numberFinal, Amplification2024-01-01
BiomarkerFinal

HRD (Homologous Recombination Deficiency)-high HLA LOH (Human Leukocyte Antigen Loss of Heterozygosity) -HLA-A loss

2024-01-01
Other Types of Variantcomplex rearrangementFinal2024-01-01