Limb Abnormalities

Tests Available

Forms and Documents

Test Details

ESCO2, HDAC8, LMBR1, NIPBL, NSDHL, RAD21, SALL1, SALL4, SHH, SMC1A, SMC3, TBX5, TP63, WNT3
  • Diagnosis in a patient based on clinical or radiographic findings suggestive of a skeletal dysplasia involving abnormal limbs
  • Diagnosis for known familial pathogenic variant(s)
  • Distinguish between causes and forms of skeletal dysplasias
  • Genetic counseling, especially regarding recurrence risk
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

J801
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

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

References

  1. Bornholdt D, et al. (2005) J Med Genet. 42(2):e17. PMID: 15689440
  2. Deardorff MA, Noon SE, Krantz ID. Cornelia de Lange Syndrome. 2005 Sep 16 [Updated 2016 Jan 28]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http
  3. du Souich C, Raymond FL, Grzeschik KH, Boerkoel CF. NSDHL-Related Disorders. 2011 Feb 1 [Updated 2015 Nov 25]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Availa
  4. Gil-Rodriguez MC, et al. (2015) Hum Mutat 36(4): 454-62. PMID: 25655089
  5. Gordillo M, Vega H, Wang Jabs E. Roberts Syndrome. 2006 Apr 18 [Updated 2013 Nov 14]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncb
  6. Kohlhase J. SALL4-Related Disorders. 2004 Aug 16 [Updated 2015 Jan 15]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/
  7. Kohlhase J. Townes-Brocks Syndrome. 2007 Jan 24 [Updated 2016 Jan 14]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/b
  8. Konig A, et al. (2000) Am J Med Genet 90(4): 339-346. PMID: 10710235
  9. Lettice LA, et al. (2003) Hum Mol Genet 12(14):1725-35. PMID: 12837695
  10. Mannini L, et al. (2013) Hu Mutat. 34(12) PMID: 24038889
  11. McDermott DA, Fong JC, Basson CT. Holt-Oram Syndrome. 2004 Jul 20 [Updated 2015 Oct 8]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.n
  12. Niemann S. Tetra-Amelia Syndrome. 2007 Aug 28 [Updated 2012 Aug 2]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/book
  13. Niemann S, et al. (2004) Am J Hum Genet 74(3):558-63. PMID: 14872406
  14. 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; 1993-2016. Available from: https://www.ncbi.