Ectodermal dysplasia, hypohidrotic
Analysis ID 239
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Ectodermal dysplasia, hypohidrotic
OMIM #224900
Clinical information There are more than 150 clinically distinct hereditary syndromes in which ectodermal dysplasia may be present. Most syndromes are extremely rare and present with variable defects in morphogenesis of ectodermal structures, i.e. hair, skin, nails, and teeth. In the X-linked recessive form of hypohidrotic ectodermal dysplasia (HED), males are usually more severely affected, and females show variable severity, ranging from mild to severe. There are also autosomal recessive and autosomal dominant forms of the disorder. A distinct form of X-linked hypohidrotic ectodermal dysplasia with immune deficiency has been described.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes EDAR
Analysis description Sequencing of the entire coding region of the EDAR gene
Analysis indication Hypohidrotic ectodermal dysplasia
Analysis time Appointed individually
Refund No
CGM laboratory name Laboratory for diagnostics of the hereditary disorders