PAX6 Gene / Aniridia / Developmental Eye Disorders

Test details
Genes
  • DCDC1
  • ELP4
  • PAX6
  • WT1
Medical Speciality
  • Eye Disorders
Disorders
  • Aniridia
  • Anophthalmia
  • Anterior Segment Dysgenesis
  • Developmental Eye Disorders
  • Microphthalmia
  • 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
Ordering
Test Code GD491
Turn Around Time 4 weeks
Collection Instructions LAV: Fill lavender-top (EDTA) tube completely, invert 8-10 times. DO NOT SHAKE TUBE!
BILLING
ICD CODES
  • 743.45 ANIRIDIA
  • 743.9 UNSPECIFIED ANOMALY OF EYE CONGENITAL
MORE TEST DETAILS
https://www.genedx.com/test-catalog/available-tests/pax6-gene-sequencing-deldup-panel