Polymerase chain reaction (PCR)
Analysis of the entire coding region: Sequence analysis
Reasons for Rejection
- Clotted specimen
- Frozen specimen
- Wrong collection tube
Please click on the Lab Form Link in the Forms Section to print and complete the Genetic Test Requisition Form. Submission of completed Genetic Test Requisition Form is required, and submission of informed consent form is recommended.
This test sequences the entire protein-coding region of the GJB2 gene (commonly known as Connexin 26 gene). Pathogenic mutations in this gene can cause autosomal receissve deafness 1A (which accounts for 50% of autosomal recessive hearing loss) and autosomal dominant deafness 3A. It is estimated that nearly 40% of individuals with non-syndromic congenital hearing loss have pathogenic mutations in the GJB2 gene.
When GJB2 (Connexin 26) sequencing and GJB6 (Connexin 30) deletion analysis are ordered on the same specimen, then GJB2 (Connexin 26) sequencing will be done first, and reflexed to GJB6 deletion analysis if zero or one mutation is found in the GJB2 gene. If automatic reflex test to GJB6 (Connexin 30) is desired, please order GJB6 deletion analysis with GJB2 (Connexin 26) sequencing (test code: CONN30). Digenic inheritance of one mutation in GJB2 in trans with a deletion in GJB6 and/or a deletion of both copies of the GJB6 gene can also cause non-syndromic hearing loss.