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Test Code: NCX30
Description: Up to 50% of all patients with autosomal recessive nonsyndromic prelingual hearing loss have mutations in the gene encoding connexin 26 (GJB2). However, in many patients only one mutant allele is detected. A large deletion in the neighboring gene, encoding connexin 30 (GJB6), can result in monogenic hearing loss (if homozygous) or a digenic pattern of inheritance of autosomal recessive nonsyndromic hearing loss, if present in combination with a GJB2 mutation. We recommend connexin 26 testing first, and connexin 30 testing if no or only a single mutation was found.


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