Bilateral Hearing Loss (35delG)

Service Description

Real-Time PCR Bilateral hearing loss (35delG) refers to a genetic variation in the GJB2 gene that can cause hearing loss in both ears. The GJB2 gene provides instructions for making a protein called connexin 26, which is involved in the formation of gap junctions - channels that allow ions and small molecules to pass between neighbouring cells in the inner ear. The 35delG variation is a deletion of a single nucleotide in the GJB2 gene, which results in a frameshift and premature termination of the protein. As a result, the connexin 26 protein is either not produced or is produced in a non-functional form, leading to abnormal development or degeneration of the inner ear and resulting in hearing loss. The severity of hearing loss associated with 35delG can vary widely, ranging from mild to profound. The variation is most commonly found in people of European descent and is estimated to account for up to 50% of genetic hearing loss cases in this population. Testing for 35delG may be recommended for individuals with a personal or family history of hearing loss, or for individuals who are at increased risk due to other factors, such as exposure to loud noise or certain medications. Sample: BLOOD Results: 2 WEEKS Phlebotomy fee: Included in price Code: E-G20-2WKS