Ectodermal Dysplasia

The clinical features of the X-linked and autosomal forms of hypohidrotic ectodermal dysplasia can be indistinguishable. EDA1 gene mutations have been found in 75%-95% of familial hypohidrotic ectodermal dysplasia and about 50% of sporadic cases. Sequencing can detect approximately 95% of EDA1 mutations in affected males. In approximately 10% of patients, large deletions of one or more exons or a deletion of the entire EDA1 gene have been reported. In females, targeted array CGH analysis with exon-level resolution (ExonArrayDx) is performed concurrently with sequencing to evaluate for such intragenic deletions/duplications. Mutations in the WNT10A gene have been reported in up to 9% of individuals with ectodermal dysplasia and in 25% of individuals with HED who do not have a mutation in the EDA1 gene. A broad spectrum of clinical features has been found in ectodermal dysplasia patients who are compound heterozygous or homozygous for mutations in the WNT10A gene, with the most consistent clinical feature being severe oligodontia of permanent teeth. Other common features include: dry skin, nail dystrophy, abnormal teeth, sparse hair, and hypohidrosis or hyperhidrosis. Approximately 50% of heterozygotes carrying a WNT10A mutation have mild clinical symptoms of ectodermal dysplasia, including abnormal teeth and nails. Mutations in the EDAR gene are responsible for both autosomal dominant and autosomal recessive forms of HED. Mutations in this gene have been reported in about 7% of individuals with HED and in up to 25% of individuals with HED who do not have a EDA1 gene mutation. The clinical features are clinically indistinguishable from the X-linked form (EDA1) and include fine, sparse and light-colored scalp and body hair (hypotrichosis), decreased ability to sweat leading to heat intolerance, and missing, conical or peg shaped teeth. The facial features are characterized by dark pigmented skin surrounding the eyes, saddle nose and full lips. Males and females are equally affected.

Tests Available

Forms and Documents

Test Details

EDA1
  • Confirmation of a clinical diagnosis
  • Differentiation between X-linked and recessive forms of the disease
  • Carrier detection in female relatives of an affected male
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

1601E
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
Yes
Yes
  • 757.31 Congenital ectodermal dysplasia
* For price inquiries please email zebras@genedx.com

References

  1. Monreal et al. 1998 Am J Hum Genet 63:380-389
  2. Vincent et al. 2001 Eur J Hum Genet 9:355-363
  3. Paakkonen et al. 2001 Hum Mut 17:349

Forms and Documents

Test Details

EDAR
  • Confirmation of a clinical diagnosis
  • Differentiation between X-linked and autosomal forms of the disease
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

156
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Dried Blood Spots | Buccal Swabs

Billing

81479x1
Yes
Yes
  • 757.31 Congenital ectodermal dysplasia
* For price inquiries please email zebras@genedx.com

References

  1. Bal, E et al. Hum Mutat. 28:703-709, 2007.
  2. Headon et al. Nature. 414:913-916, 2001.
  3. Monreal et al. Nat Genet 22:366-369, 1999.
  4. Chassaing et al. Hum Mutat. 27(3):255-259, 2006

Forms and Documents

Test Details

WNT10A
  • Confirmation of a clinical diagnosis
  • Definition of the molecular basis for ectodermal dysplasia
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

373
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Dried Blood Spots | Buccal Swabs

Billing

81479x1
No
Yes
  • 757.31 Congenital ectodermal dysplasia
* For price inquiries please email zebras@genedx.com

References

  1. Bohring et al. Am J Hum Genet. 85:97-105, 2009
  2. Adaimy et al. Am J Hum Genet. 81:821-828, 2007

Forms and Documents

Test Details

EDARADD
  • Confirmation of a clinical diagnosis
  • Differentiation between X-linked and autosomal forms of the disease
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

617
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Dried Blood Spots | Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Cluzeau C. et al., (2011) Hum Mutat 32:70-71. Bergendal B. et al., (2011) Am J Med Genet Part A 155:1616-1622.

Forms and Documents

Test Details

NIPBL, SALL1, SALL4, TBX5, TP73L (TP63)
  • Prenatal diagnosis in a fetus based on ultrasound findings suggestive of a limb abnormality syndrome
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Distinguish between causes and forms of limb abnormality syndromes
  • Genetic counseling, especially regarding recurrence risk
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

937
3 weeks
20 mg CVS
20 mL Amniotic Fluid|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 ug DNA Concentration

Billing

81265x1, 81405x1, 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Urban M, et al. Am J Med Genet. 2001 Jul 22;102(1):73-5.
  2. Huang WH, Porto M. Obstet Gynecol. 2002 May;99(5 Pt 2):956-8.
  3. Clark DM, et al. Am J Med Genet A. 2012 Aug;158A(8):1848-56. doi: 10.1002/ajmg.a.35410. Epub 2012 Jun 27.
  4. Kohlhase (Updated May 2012). Townes-Brocks Syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org.
  5. Kohlhase (Updated January 2015). SALL4-Related Disorders. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. available at http://www.genetests.org.
  6. Tongsong T, Chanprapaph P., J Clin Ultrasound. 2000; 28: 98–100.
  7. Sepulveda W, Enriquez G, Martinez JL, Mejia R., J Ultrasound Med. 2004; 23: 983–7.
  8. Sutton VR, van Bokhoven H. TP63-Related Disorders. 2010 Jun 8 [Updated 2015 Aug 6]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  9. Kline et al. (1993) Am J Med Genet 47:1042-1049.
  10. McDermott, D. et al., Pediatr Res. 58: 981-86, 2005.
  11. Gillis et al. (2004) Am J Hum Genet 75:610-623.
  12. Borck et al. (2006) Hum Mutat 27:731-735.
  13. Minor et al. (2014) Gene537:279-284.
  14. Castronovo et al. (2010) Clin Genet 78:560-564.
  15. Niu et al. (2006) Prenat Diagn 26:1054-1057.
  16. Weichert et al. (2011) J Mat Fetal Neonat Med 24(7):978-982.
  17. Botzenhart, E. et al., Human Mutation 26:282, 2005.
  18. Miertus, J. et al., Hum Genet. 119: 154-161, 2006.
  19. Marlin, S. et al., Human Mutation 14: 377-386, 1999.
  20. Borozdin, W. et al., Human Mutation 867(Online) 2006.
  21. Borozdin, W. et al., J Med Genet. 41(9):e113, 2004.
  22. Kohlhase J. et al., J Med Genet. 40:473-478, 2003.
  23. Akrami, SM. et al. J Med Genet. 38:E44, 2001.
  24. Fan, C. et al. J Med Genet. 40:e29, 2003.
  25. Borozdin, W. et al. Hum Mutat. 27:975-976, 2006.