Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Independence Day, GeneDx will be closed on Friday, July 3rd, and Saturday, July 4th. Nevertheless, all specimens arriving on Friday, July 3rd will be accepted, accessioned and processed. We will not accept specimens on Saturday, July 4th. We will resume our normal Monday through Saturday schedule on Monday, July 6, 2015. Please also note that FedEx works on a modified schedule on Friday, July 3rd and FedEx and UPS are closed on Saturday, July 4th. If you have any questions or inquiries, please call us at 301-519-2100 or email us at

SOX2 Del/Dup



Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis
Lab Method:
Exon Array CGH


Test Code:
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube


CPT Codes:
New York Approved:
ABN Required:
Billing Information:
View Billing Policy
ICD Codes:
  • 743.1: Microphthalmos, unspecified
  • 743.11: Simple microphthalmos
  • 743.9: Unspecified anomaly of eye
* For price inquiries please email


  1. Hagstrom SA et al. (2005) Am J Med Genet (2005) 138(2):95
  2. Williamson, KA et al. (2006) Hum Mol Genet 15(9):1413
  3. 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
  4. Bakrania et al. (2007) Br J Ophthalmol 91:1471-17476
  5. Schneider et al. (2009) Am J Med Genet 149A(12)2706-2715
  6. Bar-Yosef U et al., (2004) Hum Genet 115: 302–309
  7. Ragge NK et al., (2007) Eye 21(10):1290-300
  8. Wyatt A et al., (2008) Hum Mutat. (2008) 29(11):E278-83
  9. Elliott J et al., (1993) 30(3):251-2
  10. Bennett CP (1991) J Med Genet 1991;28:280-1
  11. Gallardo, ME et al., (2004) Am J Med Genet 129A:92
  12. Gallardo ME et al., (1999) Genomic 61:82
  13. Fantes, J et al (2003) Nature Genetics 33:462
  14. Forrester and Merz (2006) Birth Defects Res A Clin Mol Terato 76:187-192.

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