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Ectodermal Dysplasia via the EDA 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
7631 EDA 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7631EDA81479 81479(x2) $640 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.

Turnaround Time

18 days on average for standard orders or 13 days 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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • 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).

Genetics

Mutations in the EDA gene cause an X-linked form of the ectodermal dysplasia and selective tooth agenesis. Female carriers may have mild HED, and approximately 80% of female carriers may have missing teeth (Wright et al. 2014). Ectodysplasin A encoded by the EDA gene plays a key role in the development of ectodermal structures such as hair follicles, sweat glands, and teeth. To date, more than 200 unique pathogenic variants have been reported. They are: missense (51%), small deletion and insertion (27%), nonsense (7%), splicing (8%), gross deletion (7%) and only one large insertion (Cluzeau et al. 2011; Orstavik et al. 2007; and Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PG-Select

Mutations in EDA account for 55-60% of pathogenic mutations identified in HED patients. EDA mutations were found in 20 out of 27 unrelated clinical diagnosed HED patients (Zhang et al. 2011) and 35 out of 61 HED/EDA patients (Cluzeau et al. 2011).

Gross deletions account for ~7% of mutations found in the EDA gene; only one large insertion involving EDA has been reported (Cluzeau et al. 2011; Orstavik et al. 2007; and Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the EDA 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 X-linked HED, selective tooth agenesis and the family members of patients who have known EDA mutations.

Gene

Official Gene Symbol OMIM ID
EDA 300451
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Tests

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

Citations

  • Ørstavik KH, Knudsen GPS, Nordgarden H, Ormerod E, Strømme P, Lazarou LP, Rosser LG, Prescott T, Houge G. 2007. Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene. Am. J. Med. Genet. A 143A: 1510–1513. PubMed ID: 17568423
  • Cluzeau et al. 2011. PubMed ID: 20979233
  • 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
  • Zhang J, Han D, Song S, Wang Y, Zhao H, Pan S, Bai B, Feng H. 2011. Correlation between the phenotypes and genotypes of X-linked hypohidrotic ectodermal dysplasia and non-syndromic hypodontia caused by ectodysplasin-A mutations. European Journal of Medical Genetics 54: e377–e382. PubMed ID: 21457804

Ordering/Specimens

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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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


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.
Total Price: $
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