T/SZAS 34-2021 The application specifications for detecting Duchenne/Becker muscular dystrophy based on high-throughput sequencing technology

Scope

Main technical content: This document specifies the clinical application of detecting Duchenne/Becker muscular dystrophy based on high-throughput sequencing technology, including pre-detection genetic counseling, laboratory workflow, sample quality evaluation, subject information and sample preservation, experimental operation requirements, internal quality control, inter-laboratory evaluation requirements, data analysis standards, reporting principles, report writing and issuance, and post-detection genetic counseling. This document is applicable to institutions that use high-throughput sequencing, also known as "next-generation sequencing" (NGS), to detect DMD. It uses high-throughput sequencing technology to detect the DMD gene in genomic DNA extracted from peripheral blood, dried blood spots, saliva, etc., and completes the screening or genetic diagnosis of DMD/BMD diseases.

Development Information

Related Standards