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

Ordering

J801
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

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

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

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.