Number of Panel Genes: 
9

Ectodermal dysplasias are congenital disorders affecting hair, nails, teeth, and sweat glands. Some forms are characterized by abnormal development in two or more of the ectodermal structures. Anhidrotic or hypohidrotic forms are typically associated with sparse or absent hair, missing and/or malformed teeth, and hypoplastic eccrine glands.

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Tests Available

9 Panel Genes: EDA, EDAR, EDARADD, GJB6, HOXC13, KDF1, KRT74, KRT85, MSX1
Next Generation Sequencing
$1,120
Test Code: 5206
Deletion / Duplication
$990
Test Code: 5207
NGS/Del Dup Comprehensive
$1,495
Test Code: 5208

Test Details

Technical Information
Panel Genes: 
EDA, EDAR, EDARADD, GJB6, HOXC13, KDF1, KRT74, KRT85, MSX1
Disease Groups: 
Skin, Tooth, Nail and Hair Disorders
Billing
Price: 
$1,120
CPT Codes: 
81479 x 9
Ordering
SKU:
5206
Turnaround Time: 
Typically 2 to 4 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: a minimum of 3 µg (at a concentration of at least 30 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: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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