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 Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 7033 | EDAR | 81479 | 81479,81479 | $990 | Order Options and Pricing |
Pricing Comments
Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.
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.
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 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.
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.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| EDAR | 604095 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Diseases
| Name | Inheritance | OMIM ID |
|---|---|---|
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome | AR | 224900 |
| Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant | AD | 129490 |
Related Tests
| Name |
|---|
| 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 |
Citations
- 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/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
If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.
Specimen Types
Specimen Requirements and Shipping Details
Loading...
×
ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.