GJB6 Deletion

Test Background

Deletion analysis is used to detect the 342kb deletion in the GJB6 (CX30) gene. Mutations in GJB6 (CX30) are associated with hereditary non-syndromic sensorineural hearing loss. The 342kb deletion spans the GJB6 (CX30) gene, but not the neighboring GJB2 (CX26) gene. This GJB6 342kb deletion has been found either as a compound heterozygote with a GJB2 (CX26) mutation or as a homozygous deletion in some patients with hereditary non-syndromic sensorineural hearing loss.

Gene(s): 

GJB6

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.

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