Connexin 26 Sequencing Early Childhood Hearing Loss

Connexins are proteins that form channels to allow transport of molecules between cells. Proteins connexin 26 and connexin 30 interact to form a channel that functions in the inner ear. The GJB2 gene that encodes the connexin 26 protein is located on chromosome 13. Over half of all cases of early childhood hearing loss are believed to be caused by mutations of the GJB2 gene. Children born with hearing loss are candidates for connexin 26 gene testing.

We perform sequencing of the entire coding region of GJB2 gene. We recommend that an individual first be tested for the most common mutation in the GJB2 gene. If nothing is found we will reflex to GJB6.

Methodology: Sequencing of entire coding region

Purpose: Confirmation of Clinical Diagnosis

ICD-9 Code 389.10

Test Requisition: Sequencing Requisition

CPT Code: 81252 Cost: $468.00

Turn-around-time: 3-4 weeks