YY/T 1946-2024 Gene mutation in tumor tissue detection kit(high-throughput sequencing)
This document defines the terms and definitions of the tumor tissue gene mutation detection kit (high-throughput sequencing method) (hereinafter referred to as the "kit"), stipulates the relevant requirements, labels, and user manuals, as well as packaging, transportation, and storage, and describes the corresponding experimental methods.
This document applies to kits using probe capture or multiplex PCR for high-throughput sequencing, which are used to detect single nucleotide variants (SNVs), insertion-deletion variants (Indels), copy number variants (CNAs), gene fusions (Fusions), tumor mutation burden (TMB), and/or microsatellite instability (MSI) in formalin-fixed, paraffin-embedded (FFPE) tissue samples from tumor patients. This document also applies to kits for paired tumor tissue-control sample detection.
This document does not apply to kits used for tumor gene mutation detection using whole exome sequencing and single-molecule sequencing technologies.
Note: The control samples may be whole blood or cancer-adjacent tissue samples, mainly used to distinguish germline mutations in the detection of tumor FFPE tissue samples.