Prenatal Cornelia de Lange Syndrome (CdLS)

Cornelia de Lange syndrome (CdLS) is a pan-ethnic disorder characterized by pre- and postnatal growth retardation and various congenital anomalies. Distinct craniofacial dysmorphisms include microbrachycephaly, synophrys, long eyelashes, long philtrum, thin upper lip, downturned mouth and small upturned nasal tip. Limb anomalies range from oligodactyly and small hands to absence of forearm. Gastrointestinal disorders resulting in feeding difficulties and hirsutism are common. Intellectual disability varies greatly, with an average IQ of 53. Less common features include psychomotor retardation, high arched palate with cleft, autism-like behavior, self-injurious behaviors, speech impairment, sensorineural hearing loss, and ophthalmological, genito-urinary (cryptorchidism) and heart anomalies. Mild to severe forms of CdLS have been observed. Prenatally, IUGR, increased nuchal translucency, cystic hygroma, bilateral upper limb reduction defects, and micrognathia have been reported on first trimester ultrasound.

Tests Available

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.

Forms and Documents

Test Details

NIPBL
  • Prenatal diagnosis in a fetus based on ultrasound findings suggestive of a Cornelia de Lange syndrome
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

738
2-3 weeks
20 mL Amniotic Fluid
2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi

Billing

81479x1, 81265x1
No
No
  • 655.23 Hereditary disease in family possibly affecting fetus
  • 655.83 Other known or suspected fetal abnormality, not elsewhere classified
* For price inquiries please email zebras@genedx.com