Connexin 26 Sequence Analysis

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: two to three ml whole blood in purple top EDTA tube
  • Children (>2 years) and adults: five to seven 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 morning at the latest).

Shipping Address

Center for Human Genetics Laboratory
10524 Euclid Ave, Sixth Floor
Cleveland, OH 44106

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 Code

$809.09 / 81404

Please submit a completed Prenatal and Postnatal Cytogenetics and Molecular specimens requisition for each sample.

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