Test & specimen information
Connexin/DFNB1
Overview
Non-syndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. Non-syndromic hearing loss can be caused by alterations in over 90 genes however, the most commonly associated genes are GJB2 and GJB6 genes.
The GJB2 and GJB6 genes provides instructions for making the connexin 26 and connexin 30 proteins respectively. Alterations in the GJB2 or GJB6 gene change their connexin proteins, which may affect the function or survival of cells that are needed for hearing.
Turnaround time
Diagnostic, carrier, partner testing: 8-12 weeks.
Prenatal: 3 weeks