Prenatal Anophthalmia/Microphthalmia Panel & Del/Dup


OTX2, SOX2, VSX2 (CHX10)


  • Microphthalmia
  • Anophthalmia

Clinical Utility

  • Full sequencing testing for fetuses with prenatal ultrasound findings suggestive of anophthalmia/microphthalmia

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Test Code


CPT Codes*


ABN Required


Turnaround Time**

2-3 weeks

Preferred Specimen

20 mL Amniotic Fluid

Alternative Specimen

20 mg CVS | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 3 Ug DNA Concentration

*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.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.