Disorders


 

Hypohidrotic Ectodermal Dysplasia, Autosomal


Synonym(s): ADAED, ADHED, Anhidrotic Ectodermal Dysplasia, Autosomal, ARAED, ARHED

 

OMIM

GeneLocusProtein
EDARADD1q42.3Tumor necrosis factor receptor superfamily member EDAR

Laboratory Test Method Prenatal Carrier *
Aarhus University Hospital, Department of Clinical Genetics - Aarhus, Denmark• Sequence analysis of the entire coding region
 
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany• Sequence analysis of the entire coding region
 
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
diagenos - Osnabrueck, Germany• Sequence analysis of the entire coding region
 
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel• Sequence analysis of the entire coding region
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
Institute of Medical Genetics, All Wales Molecular Genetics Laboratory - Cardiff, Great Britain• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
 
Praxis fuer Humangenetik Wien - Vienna, Austria• Sequence analysis of the entire coding region
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Deletion/duplication analysis
 
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Sequence analysis of the entire coding region

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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