Order GJB2 (Connexin 26) Sequencing Test for Related Ectodermal Dysplasia
Several syndromes characterized by ectodermal dysplasia and hearing loss are associated with variants in the GJB2 gene including KID syndrome, Vohwinkel syndrome, Bart-Pumphrey syndrome. Read more about this test.
All samples must be accompanied with a completed requisition form. Please make sure any identifiers used on the specimen are provided on the paperwork. Consent page should be signed by a health care provider. Any incomplete or missing paperwork may delay the start of testing.
GJB2 (Connexin 26)
7ml of whole blood (3–5ml for an infant) in a lavender top tube (K2EDTA or K3EDTA)
10 ug of DNA at a minimum concentration of 25 ng/ul (please provide DNA concentration)
For questions, please contact us at 617-768-8500 or by email.