Abstract
Our goal is to provide a practical approach to the genetic evaluation of children with sensorineural hearing loss for use by practicing clinicians. We present the most recent research in the field followed by our recommended diagnostic algorithm incorporating genetic testing. We then provide case examples of commonly encountered patient presentations as further guidance. Genetic testing has the highest diagnostic yield of any single test in the evaluation of children with congenital bilateral severe-to-profound hearing loss. For unilateral or asymmetric hearing loss, imaging is typically more informative initially than genetic testing. Recent data show that syndromic forms of hearing loss are more common than previously appreciated. A thorough and systematic evaluation of children with hearing loss that incorporates genetic testing leads to earlier diagnosis and treatment. This in turn leads to improved speech and language outcomes for children with hearing loss.
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