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6002: Nonsyndromic Hearing Loss - Connexin 30/ GJB6 sequencing

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Test Code Test Name Turnaround Blood Sample Tissue Sample CPT Codes 2015 CPT Codes 2013
6002 Nonsyndromic Hearing Loss 3 weeks $540.00 $640.00 83891, 83898x8, 83894x3, 83904x10, 83912x3 81254
Connexin 30 / GJB6 sequencing

Selecting the Appropriate Sample Type

About Nonsyndromic Hearing Loss

GIJB2 encodes a gap-junction protein with a molecular weight of 26 kDa. Therefore, the protein is also called Connexin 26. Mutations of this gene cause autosomal recessive hearing loss, or DNFB1. The mutations could be homozygous mutations or compound heterozygous mutations. In addition, heterozygous mutations of GIJB2 may cause hearing loss in association with other Connexin genes, such as Connexin 30 or GIJB6. The clinical features of hearing loss are generally non-syndromic; therefore, hearing loss is the main or only clinical phenotype.

GIJB6 encodes a junction protein with molecular weight of 30 kDa. Therefore, the protein is also called Connexin 30. The gap junction is a regionally-specified structure on the cell membranes of contacting adherent cells, which serves as a cell-to-cell channel. Connexin 30 is one out of 6 components of gap junctions. All Connexin proteins span the plasma membrane 4 times with the N-terminal and the C-terminal region facing the cytoplasm.

Mutations of GIJB6 cause autosomal recessive conditions. The mutations could be gross deletions, missense mutations, nonsense mutations, small deletions, or insertions. This sequencing test is designed to detect missense, nonsense mutations, small deletions, or insertions.