Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

Due to inclement weather, GeneDx will be closed for business, and we may be unable to accept specimens on Thursday, March 5, 2015. If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

Prenatal Anophthalmia/Microphthalmia Panel & Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
OTX2, SOX2, VSX2 (CHX10)
Disorders:
Clinical Utility:
  • Full sequencing testing for fetuses with prenatal ultrasound findings suggestive of anophthalmia/microphthalmia
Lab Method:
Capillary Sequencing, Exon Array CGH

ORDERING

Test Code:
428
Turnaround Time:
2-3 weeks
Preferred Specimen:
20 mL Amniotic Fluid

BILLING

CPT Codes:
81265x1, 81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Prenatal Billing Policy
ICD Codes:
  • 655.2: Hereditary disease in family possibly affecting fetus [0,1,3]
  • 655.8: Other known or suspected fetal abnormality, not elsewhere classified [0,1,3] Suspected damage to fetus from: environmental toxins intrauterine contraceptive device
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Forrester and Merz (2006) Birth Defects Res A Clin Mol Terato 76:187-192
  2. Williamson, KA et al. (2006) Hum Mol Genet 15(9):1413
  3. Hagstrom SA et al. (2005) Am J Med Genet (2005) 138(2):95
  4. Fantes, J et al (2003) Nature Genetics 33:462
  5. Gallardo ME et al., (1999) Genomic 61:82
  6. Gallardo, ME et al., (2004) Am J Med Genet 129A:92
  7. Bennett CP (1991) J Med Genet 1991;28:280-1
  8. Elliott J et al., (1993) 30(3):251-2
  9. Wyatt A et al., (2008) Hum Mutat. (2008) 29(11):E278-83
  10. Ragge NK et al., (2007) Eye 21(10):1290-300
  11. Bar-Yosef U et al., (2004) Hum Genet 115: 302–309
  12. Schneider et al. (2009) Am J Med Genet 149A(12)2706-2715
  13. Bakrania et al. (2007) Br J Ophthalmol 91:1471-17476
  14. E. Ferda Percin et al., (2000) Nat Genet 25(4):397-401
  15. Aijaz S et al (2004) Invest Ophthalmol Vis Sci. 45(11):3871-6
  16. Ragge NK et al., (2005) Am J Hum Genet. 276(6):1008-22

Back To Top