BRCA1 and BRCA2 Gene Mutation Detection Kit
The AmoyDx® BRCA1 and BRCA2 Gene Mutation Detection Kit (Reversible Terminator Sequencing), is intended for qualitative detection of BRCA1 and BRCA2 gene mutations (including all coding exons, exon-intron boundaries) in extracted DNA from human blood samples, fresh tissue or neutral formalin-fixed paraffin-embedded (FFPE) tissue samples. The kit is intended to be used to assess BRCA1 and BRCA2 gene status in ovarian cancer and breast cancer patients.
Technological Principles
The test kit is based on Halo-shape ANnealing and Defer-Ligation Enrichment system (HANDLE system) technology which is improved Molecular Inversion Probe (MIP) technology to capture the target gene, then through performing sequencing on Illumina platform to realize the mutation detection in target gene region.
The probe contains extension arm and ligation arm which are complementary to the target gene region. When the extension arm and ligation arm anchor to the target gene, with the help of DNA polymerase, the DNA is extended from extension arm to ligation arm. The ligase joins the incision to obtain a circular product. Exonuclease is used to digest probe, sing-strand and double-strand nucleic acid, only the circular product remains. Then the PCR amplification is performed with the common sequence on probes to obtain the enriched and target library.