Connexin 26 (GJB2) is the most common cause of autosomal recessive nonsyndromic hereditary hearing loss. The carrier frequency in the general population for a recessive deafness-causing GJB2 mutation is approximately 1 in 33, depending on ethnicity. A mutation in the Connexin 30 (GJB6) gene alone or in combination with a mutation in the GJB2 gene also causes childhood autosomal recessive nonsyndromic hearing loss. Connexin 26 is also included on our Hearing Loss Panel.
Indications for Testing
- Failed newborn hearing screen
- Pediatric/childhood non-syndromic deafness
- Pediatric/childhood sensorineural non-syndromic hearing loss
- Family history of Connexin 26 mutation, provide mutation if known
Sample Requirements
- Infants: 2-3 mL whole blood in purple top EDTA tube
- Children (>2 years) and Adults: 5-7 mL whole blood in purple top EDTA tube
Sample Handling: Blood samples stored overnight should be refrigerated or kept cold. Blood samples should never be frozen. Specimens being sent from outside facilities should be packaged with a cold pack according to standard medical safety practices. The specimen should be shipped by overnight priority [scheduled to arrive by Friday AM at the latest].
Shipping Address: Center for Human Genetics Laboratory
10524 Euclid Ave, 6th Floor
Cleveland, OH 44106
216-983-1134
For local samples, please call the Center for Human Genetics Laboratory (216-983-1134) to arrange for sample pick-up.
Turn Around Time: 14 days
Cost/CPT codes: $809.09 / 83890, 83898 (x5), 83904 (x4), 83909 (x4), 83912