T/SZAS 45-2022 The technical specifications for homologous recombination deficiency (HRD) detection based on hybrid capture sequencing
T/SZAS 45-2022 The technical specifications for homologous recombination deficiency (HRD) detection based on hybrid capture sequencing
Basic Information
Scope
Scope: This document specifies the detection principles, detection environment, reagents, instruments and consumables, sample collection, transportation and storage, detection process, result determination, and limitations of the homologous recombination deficiency (HRD) detection technology based on hybridization capture and sequencing of target regions in the human genome. Main technical content: This document is applicable to the detection of homologous recombination deficiency (HRD) in human tumor tissue samples (possibly including paired normal control samples) by high-throughput genome sequencing after hybridization capture of target regions in the genome to analyze genome scars and determine the HRD score. This document is not applicable to the following detections: a) detection of samples from non-tumor patients or circulating tumor DNA samples in the plasma of tumor patients; b) detection of HRD using whole genome high-throughput sequencing (WGS), detection of mutations or methylation changes in HRR-related genes, genome characterization, and functional detection methods; c) detection of the inactivated state of BRCA genes.