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.
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