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Connecxin 26 (GJB2)

Results usually available in 1-2 working weeks.

Between 1/2000 (0.05%) and 1/1000 (0.1%) children are born with profound hearing loss. Over one-half of prelingual deafness is genetic, most often autosomal recessive and nonsyndromic. The disorder DFNB1, which accounts for 50% of autosomal recessive nonsyndromic hearing loss,  is characterized by congenital, non-progressive mild-to-profound sensorineural hearing impairment. No other associated medical findings are present. GJB2 and GJB6, are the only genes known to be associated with DFNB1 Approximately 98% of individuals with DFNB1 have two identifiable GJB2 mutations.  The lab identifies mutations in the GJB2 gene by Sanger sequencing.