Invitae Ectodermal Dysplasia Panel


Test description

The Invitae Ectodermal Dysplasia Panel analyzes up to seven genes that are important for the development or function of ectodermal tissues, including skin, hair, teeth, nails, and sweat glands. These genes are associated with a group of conditions known as ectodermal dysplasias (ED) and were selected, based on the available evidence to date, to provide a comprehensive test for the diagnosis of these disorders.

Ectodermal dysplasias share overlapping features, which can make it difficult to distinguish between them based on clinical findings alone. This panel may confirm a genetic diagnosis without the need for sequential gene testing. Identification of a disease-causing variant would help guide treatment and management decisions as well as inform recurrence-risk assessment and genetic counseling.

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Primary panel (4 genes)


Add-on tooth agenesis genes (3 genes)

Tooth agenesis is a clinical feature that is often seen in individuals with ectodermal dysplasias, though it may also present as an isolated finding or in combination with other features, such as orofacial clefting and short stature. Unlike other ectodermal dysplasias, tooth agenesis caused by these genes may present with normal hair development and the ability to sweat. If clinically appropriate, analysis of the genes associated with tooth agenesis can be included at no additional charge.


  • Hypohidrotic ectodermal dysplasia
  • Ectodermal dysplasia
  • Tooth agenesis
  • Odonto-onycho-dermal dysplasia
  • Schöpf-Schulz-Passarge syndrome

Ectodermal dysplasia (ED) is characterized by sparse hair, atypical shape or absence of teeth, and abnormal development of sweat glands that results in a reduced ability to sweat. The clinical features of ectodermal dysplasia are variable. Some individuals present early in life with fragile skin or hair, absent or delayed eruption of teeth, and heat intolerance; others may only have mild symptoms or isolated tooth agenesis. Female carriers of X-linked ectodermal dysplasia and individuals with autosomal dominant ectodermal dysplasia are more likely to have milder clinical findings, although clinical variability is also observed in males with X-linked ED and often are indistinguishable based on inheritance pattern alone.

Approximately 55%–60% of ectodermal dysplasia (ED) cases are attributed to pathogenic variants in EDA. Between 15% and 20% of cases are attributed to variants in EDAR, 9% to variants in WNT10A, and 1%–2% to variants in EDARADD.

Ectodermal dysplasias can be inherited in several patterns, including autosomal dominant, autosomal recessive, X-linked dominant, and X-linked recessive.

EDA-related ectodermal dysplasia is highly penetrant (>70%). Penetrance for other forms of ED is uncertain.

The prevalence of ED is estimated at 1 in 5000–10,000 individuals.

This test may be considered for individuals who have sparseness of scalp and body hair, reduced ability to sweat, and congenital absence of teeth.

  1. Adaimy, L, et al. Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia. Am. J. Hum. Genet. 2007; 81(4):821-8. PMID: 17847007
  2. Bohring, A, et al. WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. Am. J. Hum. Genet. 2009; 85(1):97-105. PMID: 19559398
  3. Chassaing, N, et al. Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. Hum. Mutat. 2006; 27(3):255-9. PMID: 16435307
  4. Cluzeau, C, et al. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum. Mutat. 2011; 32(1):70-2. PMID: 20979233
  5. Dugan, SL, et al. New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse. Am. J. Med. Genet. A. 2015; 167(6):1396-9. PMID: 25899461
  6. Huckert, M, et al. Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. Hum. Mol. Genet. 2015; 24(11):3038-49. PMID: 25669657
  7. Jumlongras, D, et al. A nonsense mutation in MSX1 causes Witkop syndrome. Am. J. Hum. Genet. 2001; 69(1):67-74. PMID: 11369996
  8. Lammi, L, et al. A missense mutation in PAX9 in a family with distinct phenotype of oligodontia. Eur. J. Hum. Genet. 2003; 11(11):866-71. PMID: 14571272
  9. Lidral, AC, Reising, BC. The role of MSX1 in human tooth agenesis. J. Dent. Res. 2002; 81(4):274-8. PMID: 12097313
  10. Mostowska, A, et al. A novel mutation in PAX9 causes familial form of molar oligodontia. Eur. J. Hum. Genet. 2006; 14(2):173-9. PMID: 16333316
  11. Pinheiro, M, et al. Christ-Siemens-Touraine syndrome. Investigations on two large Brazilian kindreds with a new estimate of the manifestation rate among carriers. Hum. Genet. 1981; 57(4):428-31. PMID: 7286985
  12. Wright, JT, et al. Hypohidrotic Ectodermal Dysplasia. 2003 Apr 28. In: Pagon, RA, et al, editors. GeneReviews(®) (Internet). University of Washington, Seattle. PMID: 20301291
  13. van, den, Boogaard, MJ, et al. MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. Nat. Genet. 2000; 24(4):342-3. PMID: 10742093

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
EDA NM_001399.4
EDAR NM_022336.3
EDARADD NM_145861.2
LTBP3 NM_001130144.2
MSX1 NM_002448.3
PAX9 NM_006194.3
WNT10A NM_025216.2