SOX2 Gene Sequencing

Forms and Documents

Test Details

SOX2
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

132
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Brushes

Billing

81479x1
No
Yes
  • 743.1 Microphthalmos, Dysplasia of eye, Hypoplasia of eye, Rudimentary eye
  • 743.11 Simple microphthalmos
  • 743.9 Specified congenital anomalies of anterior chamber, chamber angle, and related structures.
* For price inquiries please email zebras@genedx.com

References

  1. Williamson, KA et al. (2006) Hum Mol Genet 15(9):141
  2. Hagstrom SA et al. (2005) Am J Med Genet (2005) 138(2):95
  3. Fantes, J et al (2003) Nature Genetics 33:462
  4. Gallardo ME et al., (1999) Genomic 61:82
  5. Gallardo, ME et al., (2004) Am J Med Genet 129A:92
  6. Bennett CP (1991) J Med Genet 1991;28:280-1
  7. Elliott J et al., (1993) 30(3):251-2
  8. Wyatt A et al., (2008) Hum Mutat. (2008) 29(11):E278-83
  9. E. Ferda Percin et al., (2000) Nat Genet 25(4):397-401. Aijaz S et al (2004) Invest Ophthalmol Vis Sci. 45(11):3871-6. Ragge NK et al., (2005) Am J Hum Genet. 276(6):1008-22
  10. Bakrania et al. (2007) Br J Ophthalmol 91:1471-17476
  11. Schneider et al. (2009) Am J Med Genet 149A(12)2706-2715
  12. Ragge NK et al., (2007) Eye 21(10):1290-300; Bar-Yosef U et al., (2004) Hum Genet 115: 302–309
  13. Forrester and Merz (2006) Birth Defects Res A Clin Mol Terato 76:187-192.