GJB2 Sequencing

Test Background

Mutations in GJB2 (CX26) are the most common cause of hereditary non-syndromic sensorineural hearing loss. If testing for GJB2 (CX26) finds only one mutation, it is possible that this individual is a compound heterozygote for another undetected mutation, because this assay does not explore the possibility of mutations in the majority of intronic and regulatory non-coding regions of GJB2 (CX26) nor examines other genes that may be involved in non-syndromic sensorineural hearing loss.

Gene(s): 

GJB2

About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

Now is the time to integrate genomics into clinical practice to inform, guide and improve medical treatment for kids around the world.