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Hypohidrotic Ectodermal Dysplasia (Autosomal Recessive)
Hypohidrotic Ectodermal Dypslasia (Autosomal Dominant)
EDAR (Human homolog of mouse "downless" (dl) gene)
The clinical features of the autosomal forms of hypohidrotic ectodermal dysplasia due to mutations in the EDAR gene are indistinguishable from the X-linked form. They include fine, sparse and light-colored scalp and body hair (hypotrichosis), decreased ability to sweat leading to heat intolerance, and missing, conical or peg shaped teeth. The facial features are characterized by dark pigmented skin surrounding the eyes, saddle nose and full lips. Males and females are equally affected.
We offer mutation analysis of the EDAR gene by direct DNA sequence analysis of the 11 coding exons and flanking intron sequences of this gene, using genomic DNA obtained from buccal (cheek) swabs or blood (2-5 cc in EDTA). The method used by GeneDx, Inc. is expected to identify nearly all mutations in EDAR, if they exist. At least one other locus for autosomal recessive hypohidrotic ectodermal dysplasia exists; hence not all individuals with this disease are expected to have a mutation in EDAR. Carrier testing (in families with the recessive form) and prenatal diagnosis is available once the mutation(s) in the family have been defined.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
ED, hypodontia, anhidrotic, downless, DL, EDAR
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