Order GJB6 (Connexin 30) Sequencing Test for Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 2 (HED2), also referred to as Clouston syndrome, is characterized by hypotrichosis (sparse hair), dysplastic nails, and palmoplantar hyperkeratosis. Hidrotic ectodermal dysplasia 2 is inherited in an autosomal dominant manner. 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.
GJB6 (Connexin 30)
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)
The Laboratory for Molecular Medicine offers several billing options for our clients and their patients; however, we do not bill insurance companies and are unable to begin testing without accurate billing information.
For questions, please contact us at 617-768-8500 or by email.