This document is suitable for using human-derived tumor tissue samples (which may include paired normal control samples), performing high-throughput gene sequencing after hybridization capture of the genome target region, analyzing genomic scars, and detecting homologous recombination defect scores (HRDscore). Methods. This document is not applicable to the following tests: a) Detection of non-tumor patient samples or tumor patient plasma circulating tumor DNA samples; b) Whole genome high-throughput sequencing (WGS), detection of HRR-related gene mutations or methylation level changes, Detect HRD using genomic feature analysis and functional testing methods; c) Detection of BRCA gene inactivation status.
T/SZAS 45-2022 history
2022T/SZAS 45-2022 Technical specification for homologous recombination deficiency (HRD) detection based on hybridization capture high-throughput sequencing