This document stipulates the clinical application of high-throughput sequencing technology to detect Duchenne/Baker muscular dystrophy, pre-test genetic counseling, laboratory workflow, sample quality assessment, subject information and sample storage, experimental operation requirements, Indoor quality control, interlaboratory quality evaluation requirements, data analysis specifications, reporting principles, report writing and distribution, post-test genetic counseling, etc. This document is applicable to institutions that use high-throughput sequencing, also known as "Next-generation sequencing" (NGS) technology to detect DMD. High-throughput sequencing technology is used to detect genomes extracted from peripheral blood, dried blood smears, saliva, etc. DNA is used for DMD gene testing to complete screening or genetic diagnosis of DMD/BMD diseases.
T/SZAS 34-2021 history
2021T/SZAS 34-2021 Application specification of Duchenne / Becker muscular dystrophy detection based on high-throughput sequencing technology