Ektodermal dysplasia

We offer in our accredited laboratory genetic testing for the most common forms of ectodermal dysplasia including:

  • pretest evaluation of your patients clinical information in order to develop an individual genetic testing strategy
  • diagnostic prenatal and postnatal genetic testing by Sanger sequencing as well as MLPA analysis
  • carrier testing
  • prenatal carrier testing in subsequent pregnancies for forms with severe clinical manifestation prior to adolescence.

All identified sequence alterations, relevant or potentially relevant for the clinical findings of your patient, are

  • confirmed by Sanger sequencing,
  • carefully assessed using our in house evaluation workflow including comparison with the human reference genome hg19, publically available and our own extensive mutation database as well as in silico prediction of functional consequences applying different algorithms,
  • rated and summarized in an individual medical report considering provided clinical data.

We offer genetic testing by Sanger sequencing for:

Disease Disease
OMIM
Gene Gene
OMIM
Chromosomal
location

Ectodermal Dysplasias

Ectodermal dysplasia 1, hypohidrotic, X-linked (+MLPA) 305100 EDA 300451 Xq13.1
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant (+MLPA) 129490 EDAR 604095 2q12.2
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (+MLPA) 224900 EDAR 604095 2q12.3
EEC3 syndrome 604292 p63 603273 3q28
Hay-Wells syndrome 106260 p63 603273 3q28
Limb-mammary syndrome 603543 p63 603273 3q28
Rapp-Hodgkin syndrome 129400 p63 603273 3q28