The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience

xlomafota13 shared this article with you from Inoreader The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience Via Clinical Otolaryngology Abstract Genetic aetiologies are an important cause of congenital ear anomalies and hearing impairment. Next-generation sequencing (NGS) strategies, such as targeted gene panels or clinical exome sequencing (CES) are effective tools in the diagnosis of patients with inherited hearing impairment, with clear advantages over previous genetic testing approaches. CES in our cohort shows the genetic heterogeneity of syndromic and non-syndromic congenital ear and hearing disorders, highlighting the clinical utility of undergoing genomic investigations. Multidisciplinary decision-making for diagnostic workup and management, including close collaboration between Genetics, Otolaryngology, Audiology and other allied specialties, is key in the investigation of congenital ear and hearing disorders. Timely molecular genetic diagnosis can streamline patient care and potentially improve clinical outcomes. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.