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Hypo-/Anhidrotic ectodermal dysplasia (X-linked)
EDA1
The clinical features of X-linked hypo-/anhidrotic ectodermal dysplasia 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. Female carriers of this disorder may have some minor symptoms, such as thin hair, patches of hypohidrosis, and abnormal teeth.
We offer mutation analysis of the EDA1 gene by direct DNA sequence analysis of the 8 coding exons and flanking intron sequences of this gene, using genomic DNA obtained from a venous blood sample. The method used by GeneDx, Inc. is expected to identify about 95% of mutations associated with hypo-/anhidrotic ectodermal dysplasia when an affected male is screened. The test is less efficient when screening a suspected carrier female, where no affected male in the family has been screened previously, because certain types of deletion mutations may be undetectable. Once a mutation has been identified, carrier detection in female relatives and pre-natal diagnosis is available. Buccal brush specimens are not accepted for this test. Please send 2-5 mL (cc) whole blood in a purple top, EDTA tube. For infants, 1-2 mL (cc) of blood is sufficient.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
ED, anhidrotic, hypodontia, EDA, EDA1, ectodermal dysplasia
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