Ectodermal dysplasia (ED) affects two or more ectodermal structures: hair, nails, sweat glands and teeth. Anhidrotic or hypohidrotic  ectodermal dysplasia (EDA/HED) is the most common form of ED and ectodermal dysplasia 1, hypohidrotic, X-linked (XHED; MIM 305100) is the most frequent form of EDA/HED. XHED is characterized by thin and sparse hair, missing and malformed teeth, and anhidrosis or hypohidrosis.read more

Tests Available

By gene: EDA
Sanger Sequencing
$730
Test Code: 2029
Deletion / Duplication
$680
Test Code: 2030
Sanger/Del Dup Comprehensive
$1,330
Test Code: 2031

Test Details

Technical Information
Genes: 
EDA
Disease Groups: 
Skin, Tooth, Nail and Hair Disorders
MIM: 
305100
Billing
Price: 
$730
CPT Codes: 
81479 x 1
Ordering
SKU:
2029
Turnaround Time: 
Typically 1 to 2 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 

Ship all specimen types at room temperature by overnight courier. Do not freeze.

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