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Ectodermal Dysplasia via the EDAR Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
7033 EDAR 81479 81479,81479 $990 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7033EDAR81479 81479,81479 $990 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Testing run on PG-Select capture probes does not include exome-wide CNV analysis. Reflex is available to PGxome or an exome-based panel, or you can use this gene list to create a custom panel (click here).

Click here for costs to reflex to whole PGxome.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Stela Berisha, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Ectodermal dysplasia (ED) is a clinically and genetically heterogeneous disorder characterized by abnormal development of hair, teeth, nail or sweat glands (Visinoni et al. 2009). ED can be clinically divided into more than 150 subtypes. Hypohidrotic ectodermal dysplasia (HED) is characterized by hypodontia, hypohidrosis and hypotrichosis. The major clinical signs are thin and dry scalp hair, eyelashes and eyebrows, reduced ability to sweat, and congenital missing or abnormal formed teeth. Some patients may have abnormal craniofacial features such as prominent forehead, saddle-back nose, and protruding lips (Visinoni et al. 2009; Wright et al. 2014). HED is currently known to be caused by mutations in the EDA, EDAR, EDARADD and WNT10A genes (Cluzeau et al. 2011).


Mutations in the EDAR gene cause autosomal dominant and recessive (also called Rapp-Hodgkin Ectodermal Dysplasia Syndrome) forms of the ectodermal dysplasia. The EDAR protein serves as a component in the EDA-EDAR-EDARADD and the NF-kappa-B pathways, which play a key role for the development of ectodermal structures such as hair follicles, sweat glands, and teeth. To date, more than 50 unique pathogenic variants have been reported. They are: missense (53%), small deletion and insertion (25%), nonsense (9%), splicing (11%), and only one large deletion (Cluzeau et al. 2011; Griggs et al. 2008; and Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PG-Select

Mutations in EDAR account for 15-20% of pathogenic mutations identified in HED patients (Wright et al. 2014). EDAR mutations were found in 10 out of 61 HED/EDA patients (Cluzeau et al. 2011).

Only one large deletion involving EDAR has been reported (Griggs et al. 2008 and Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the EDAR gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are patients with symptoms consistent with HED and the family members of patients who have known EDAR mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in EDAR.


Official Gene Symbol OMIM ID
EDAR 604095
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Tests

Ectodermal Dysplasia Panel
Ectodermal Dysplasia via the EDA Gene
Ectodermal Dysplasia via the EDARADD Gene
Ectodermal Dysplasia via the WNT10A Gene
Tooth Agenesis via the PAX9 Gene


  • Cluzeau et al. 2011. PubMed ID: 20979233
  • Griggs B.L. et al. 2009. European Journal of Human Genetics : Ejhg. 17: 30-6. PubMed ID: 18854857
  • Human Gene Mutation Database (Bio-base).
  • Visinoni A.F. et al. 2009. American Journal of Medical Genetics. Part A. 149A: 1980-2002. PubMed ID: 19681154
  • Wright J.T. et al. 2014. Hypohidrotic Ectodermal Dysplasia. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews(®), Seattle (WA): University of Washington, Seattle. PubMed ID: 20301291


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

Specimen Types

Specimen Requirements and Shipping Details

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View Ordering Instructions

1) Select Test Method (Platform)

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2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
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