Ectrodactyly- Ectodermal Dysplasia- Clefting (EEC) syndrome

EEC consists of limb malformations, ectodermal dysplasia, and cleft lip and palate (in ~40% of patients; isolated cleft lip or palate is rare). The disorder shows variable expressivity and reduced penetrance. The ectodermal dysplasia in EEC is characterized by hypohidrosis, hypotrichosis, and anodontia. The limb anomalies include ectrodactyly (in 2/3 of patients), split-hand/split-foot, or polysyndactyly. Associated findings may include lacrimal-duct abnormalities, urinary tract anomalies, dysmorphic facies, and developmental delay.

Tests Available

Forms and Documents

Test Details

TP73L (TP63)
  • Hotspot analysis for fetuses with prenatal ultrasound findings suggestive of EEC or related syndromes.
  • Mutation-specific testing for fetuses with a family history of a known TP73L (TP63) mutation
  • Capillary Sequencing

Ordering

407
2-3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 Ug DNA Concentration

Billing

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

Forms and Documents

Test Details

TP73L (TP63)
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

158
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

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

References

  1. Rinne, T. et al., (2006) Update. Am J Med Genet A. 140A: 1396-1406
  2. van Bokhoven, H. et al., (2001) Am J Hum Genet. 69: 481-92, 2001
  3. van Bokhoven, H. and Brunner, H., (2002) Am J Hum Genet. 71: 1-13

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.