Description
Connexin 26 is one of the most significant genes involved in congenital, non-syndromic, sensorineural hearing loss (NSHL, OMIM 220920) (GJB2, OMIM 121011). Connexin 26 produces a protein that directs the intracellular transfer of ions and molecules that are important in hearing. GJB2 is associated with both autosomal recessive (DFNB1) and autosomal dominant (DFNA3) hearing loss. Detects known familial mutations in the connexin 26 (GJB2) gene associated with non-syndromic sensorineural hearing loss (NSHL).
TAT
5 business days
Method
Polymerase chain reaction (PCR)
Accepted Sample requirements
EDTA Blood, DNA