Prenatal Skeletal Dysplasia Panel

Forms and Documents

Test Details

AGPS, ARSE, COL1A1, COL1A2, COL2A1, CRTAP, DLL3, DYNC2H1, EBP, EVC, EVC2, FGFR2, FGFR3, FLNB, GNPAT, IFITM5, LEPRE1, NEK1, PEX7, PPIB, SLC26A2, SOX9, TRIP11
  • Prenatal diagnosis in a fetus based on ultrasound findings suggestive of a skeletal dysplasia
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
  • Distinguish between causes and forms of skeletal dysplasias
  • Genetic counseling, especially regarding recurrence risk
  • Next-Gen Sequencing

Ordering

949
2-3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|4 Ug DNA Concentration

Billing

81404x2, 81408x2, 81265x1, 81479x2
Yes
No
* For price inquiries please email zebras@genedx.com

References

  1. Barkova, E et. al. (2014). Clinical Genetics,doi:10.1111/cge.12434 [doi]
  2. Nelson, DB et. al. (2014). Journal of Ultrasound in Medicine 33(6), 1085-1090.
  3. Noel, AE & Brown RN (2014). International Journal of Women\\\\\\\'s Health, 6, 489-500.
  4. Dighe, M, et. al. (2008). Radiographics 28(4), 1061-1077.
  5. Hatzaki, A et. al. (2011). American Journal of Medical Genetics, 155A(10), 2426-2435.
  6. Witters, I, Moerman, P & Fryns, JP (2008). Genetic Counseling (Geneva, Switzerland), 19(3), 267-275.
  7. Stratbucker, WB (2009). Pediatrics in Review, 30(3), 114-115.
  8. Valadares, ER, et. al (2014). Jornal De Pediatria, 90(6), 536-541.
  9. Krakow, D, et. al., (2009). Genetics in Medicine 11(2), 127-133.
  10. http://www.omim.org/entry/200600
  11. Mansour et al., (1995) J Med Genet 32:415-420.
  12. Mansour et al., (2002) J Med Genet 39:597-602.
  13. Pop et al. (2005) Hum Genet 117:43-53.
  14. Moog et al., (2001) Am J Med Genet 104:239-245.
  15. Pop et al., (2004) J Med Genet 41:e47.
  16. Meyer et al., (1997) Hum Mol Genet 6(1):91-98
  17. Braverman, N, Moser, A and Steinberg, S. (Updated September 13, 2012). Rhizomelic Chondrodysplasia Punctata Type 1. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-20
  18. Gunay-Aygun, M, Gahl,W, and Heller,T (Updated April 24, 2014). Congenital Hepatic Fibrosis Overview. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2015. Available a
  19. Peraita-Ezcurra M, et al. (2012) Gene. May 10;499(1):223-5.
  20. Baujat G, et al. (2007) Orphanet J Rare Dis. Jun 4;2:27.