Massively Parallel DNA Sequencing (MPS) of target genes offers a useful method of identifying rare causative gene mutations and, thereby, improving the diagnostic rate.
To improve the diagnostic rate of this genetic testing, additional genetic analysis for many rare genes was nevertheless required. From 2012, genetic testing for hearing loss patients using the Invader assay has been covered by social health insurance in Japan. By focusing on frequently recurring mutations with ethnic origin that are most likely to be encountered in a clinical setting, we developed the Invader assay-based genetic screening test for 46 mutations in 13 genes, which can identify ∼30–40% of hearing loss patients (Abe et al., 2007 Usami et al., 2012). One-by-one gene screening is, however, time-consuming. Approximately 100 genes are estimated to be involved in hereditary hearing loss, so there is a great need for effective genetic testing (Hereditary Hearing Homepage ). It appears in one of 1000 newborns, with 50–70% of cases attributable to genetic causes (Morton and Nance, 2006). Conclusion: The Ion Personal Genome Machine system had sufficient uniformity and accuracy for application to the clinical diagnosis of common causative mutations and efficiently identified rare causative mutations and/or mutation candidates.Ĭ ongenital hearing loss is one of the most common sensory disorders. Results: We compared the results of Invader assay-based genetic screening, the accuracy of which has already been verified in previous studies, with those of MPS-based genetic testing for a large population of Japanese deafness patients and revealed that over 99.98% of the results were the same for each genetic testing system. Before its clinical application, we investigated the accuracy of MPS-based genetic testing. Aim: Toward more effective genetic testing, we adopted Massively Parallel DNA Sequencing (MPS) of target genes using an Ion PGM™ system and an Ion AmpliSeq™ panel to diagnose common mutations responsible for deafness and discover rare causative gene mutations.
Although recent advances in the identification of deafness genes have resulted in more accurate molecular diagnosis, leading to the better determination of suitable clinical interventions, difficulties remain with regard to clinical applications due to the extreme genetic heterogeneity of deafness. Background: Congenital hearing loss is one of the most common sensory disorders, with 50–70% of cases attributable to genetic causes.
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