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Drug-Related Deafnss Gene Mutations Detection

According to research reports, individuals with inherited cancer genes have a higher risk of cancer than ordinary people. About 7% of breast cancer and 1%-15% of ovarian cancer are caused by BRCA1/BRCA2 gene mutations. In families with a high incidence of breast and ovarian cancer, 80% of patients have mutations in the BRCA1/BRCA2 gene, and this gene is inherited in an autosomal dominant manner in the population. This test detects the entire coding region of BRCA1/BRCA2 genes, and 20bp intron regions upstream and downstream of the coding region, in addition to known mutation hotspot genes, unknown mutations can be detected.

Genetic Testing for BRCA1/2 Targeted-drug Guidance [ Germline + Somatic] This test detects somatic and germline SNV, InDel and CNV mutations in the BRCA1 and BRCA2 genes, covering the entire coding region of the BRCA1/2 gene and both flanking intron regions, provide information to guide PARP inhibitor therapy in breast & ovarian cancer.

GJB2 Gene Coding Region and Splicing Site Detection This test is based on NGS technology, by detecting SNV、small InDel (<20bp) of GJB2 exon and 10bp intron of its upstream and downstream, can provide information as if the subject carrying GJB2 gene related deafness mutations.

Genetic Testing of 18 Hereditary Cancer This test can provide risk assessment in high-risk groups with a family history by detecting gene mutations in the entire coding region and splice region of 64 genes associated with 18 hereditary tumors at one time.