GeneDx and Sema4 are now a combined company  Learn more

PAX6 Gene Sequencing & Del/Dup Panel


Genes

DCDC1, ELP4, PAX6, WT1

Conditions

  • Developmental Eye Disorders
  • Microphthalmia
  • Aniridia
  • Anophthalmia
  • Anterior Segment Dysgenesis
  • Peter’s Anomaly
  • Rieger Syndrome

Clinical Utility

  • Confirmation of clinical diagnosis
  • Determination of the molecular basis of aniridia in patients at risk for Wilms tumor (Differentiating PAX6 related aniridia from WAGR syndrome)
  • Prenatal diagnosis

Lab Method

  • Capillary Sequencing
  • Deletion/Duplication Analysis

Test Code

491

CPT Codes*

81479x1

ABN Required

No

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.