Hereditary deafness is a disease of clinical focus. There are about 35,000 new cases of deafness in China every year, more than 60% of which are caused by genetic factors. At the request of the hospital, Basecare has developed a set of genetic deafness detection methods based on NGS platform targeted sequencing for clinical screening and scientific research by taking advantage of the advantages of Panel design, experimental implementation, data analysis and genetic counseling.
The deafness targeted sequencing Panel designed by Basecare contains 258 total exons of related nuclear genes, 81 non-cds regional sites and whole mitochondria. After optimization, the coverage of the gene exons is improved from 98.2% to 99.77%, including all the current deafness-related pathogenic sites and suspected pathogenic sites, which is significantly better than the relevant products in the market. This hereditary deafness detection method has been well received by customers for its advantages of high coverage, high detection rate and automated reporting. More than 200 samples have been tested, which has contributed to blocking the transmission and occurrence of hereditary deafness, studying the pathogenesis of hereditary deafness at the molecular level, and accumulating the theoretical basis for the diagnosis and treatment of hereditary deafness and drug design.