Connexin 30 Deletion

Genetic causes are responsible for more than 60 percent of cases of hearing loss, with the majority of these cases comprised of non-syndromic autosomal recessive sensorineural hearing loss. In many populations, up to 50 percent of all cases of non-syndromic autosomal recessive sensorineural hearing loss are caused by mutations in the DFNB1 locus that includes both GJB2 (Connexin 26) and GJB6. Our lab has historically offered full sequencing for GJB2 (Connexin 26 sequence analysis), however literature has reported that patients with non-syndromic autosomal recessive sensorineural hearing loss who carry only one copy of a mutation in GJB2, or who are not found to have any mutations in GJB2 may also carry mutations in GJB6. The common mutations involving the GJB6 gene are the 309 kb deletion and 232 kb deletion. Connexin 30 (GJB6) sequence analysis is available for those patients who are not found to have one of these common mutations. GJB6 deletion testing and GJB6 sequence analysis are also included on our hearing loss panel.

Indications for Testing

  • Clinical diagnosis of hearing loss and one mutation identified in the GJB2 gene
  • Clinical diagnosis of hearing loss and negative GJB2 sequence analysis
  • Family history of GJB6 mutation, provide mutation if known

OMIM #: 604418

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
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 Code

$343.18 / 81400

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

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