Inherited Hearing Disorders
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Connexin 26The connexins are a family of proteins that are present in gap junctions of adherent cells. A common frameshift mutation (35 delG) in connexin 26 was found to occur at a carrier frequency of 1 in 35 to 1 in 79 in Europe and segregated worldwide in families with nonsyndromic recessive deafness. Another frameshift mutation (167 delT) is present at a carrier frequency of 1 in 25 among Ashkenazi-Jewish individuals. This test will detect both mutations, which are deleterious when they occur either in homozygous or compound heterozygous forms. |