Detects mutations in the coding region and noncoding first exon of the (GJB2) gene, plus at least two and typically 20 flanking intronic nucleotides upstream and downstream of each coding exon, covering the conserved donor and acceptor splice sites.
Confirms a diagnosis of GJB2-related nonsyndromic sensioneural hearing loss; detects carriers.
This method does not reliably detect mosaic variants; large deletions; large duplications, inversions, or other rearrangements; deep intronic variants or variants outside of the regions targeted by this analysis. It may be affected by allele-dropout, it may not allow determination of the exact numbers of T/A or microsatellite repeats, and it does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.
This test is orderable only by a genetic counselor.