GeneDx and Sema4 are now a combined company  Learn more

Prenatal Anophthalmia/Microphthalmia Panel & Del/Dup


Genes

OTX2, SOX2, VSX2 (CHX10)

Conditions

  • 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

428

CPT Codes*

81479x3

ABN Required

No

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.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.