Clinical Genetic Testing for Hearing Loss: Implications for Genetic Counseling and Gene-Based Therapies.

ABSTRACT: Genetic factors contribute significantly to congenital hearing loss, with non-syndromic cases being more prevalent and genetically heterogeneous. Currently, 150 genes have been associated with non-syndromic hearing loss, and their identification has improved our understanding of auditory physiology and potential therapeutic targets. Hearing loss gene panels offer comprehensive genetic testing for hereditary hearing loss, and advancements in sequencing technology have made genetic testing more accessible and affordable. Currently, genetic panel tests available at a relatively lower cost are offered to patients who face financial barriers. In this study, clinical and audiometric data were collected from six pediatric patients who underwent genetic panel testing. Known pathogenic variants in

SUBMITTER: Lee NK 

PROVIDER: S-EPMC11274279 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature