GeneDx and Sema4 are now a combined company  Learn more

Renal-Coloboma Syndrome / Papillorenal Syndrome (PAX2)




  • Renal-Coloboma Syndrome / Papillorenal Syndrome

Clinical Utility

  • Confirmation of the clinical diagnosis
  • Differentiation of renal-coloboma syndrome from other coloboma-associated disorders (e.g., morning glory syndrome)
  • Establishment of an appropriate medical management plan
  • Prenatal diagnosis in at-risk pregnancies

Lab Method

  • Capillary Sequencing
  • Deletion/Duplication Analysis

Test Code


CPT Codes*


ABN Required


Turnaround Time**

3 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs

*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.