301-519-2100 • FAX 301-519-2892 • 207 PERRY PARKWAY GAITHERSBURG, MD 20877
SEARCH
Hidrotic ectodermal dysplasia
Clouston syndrome
GJB6 (Connexin 30)
Using genomic DNA obtained from buccal (cheek) swabs, evidence of the most common mutations in the GJB6 gene (coding for connexin-30), G11R and A88V, are analyzed by restriction enzyme digestion. If neither of these mutations is present, the entire single coding exon of the GJB6 gene is screened by bi-directional sequence analysis. Once a mutation has been identified and pre-natal diagnosis is available.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
sweat, ED, Clouston, GJB6,c onnexin 30, deafness
© 2000 - 2008 GeneDx, Inc. All rights reserved.
