Renal-Coloboma Syndrome / Papillorenal Syndrome

Renal-coloboma syndrome is principally characterized by ocular and renal abnormalities. The PAX2 gene encodes a transcription factor that is expressed in the developing eye, kidney, ear, ureteric bud, and midbrain/hindbrain. Individuals diagnosed with renal-coloboma syndrome present with highly variable clinical manifestations. The most common abnormalities in patients with renal-coloboma syndrome are bilateral optic nerve colobomas and renal hypoplasia with or without renal failure. Patients may also present with auditory abnormalities, urogenital defects causing vesico-ureteral reflux, and central nervous system malformations. The phenotypes among patients can vary both within and between families, and definitive genotype-phenotype correlations have largely been elusive.

Tests Available

Forms and Documents

Test Details

  • 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


3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.


  • 585.9 Chronic kidney disease, unspecified Chronic renal disease Chronic renal failure NOS, Chronic renal insufficiency
  • 743.8 Other specified anomalies of eye
  • 389.1 Sensorineural hearing loss, Perceptive hearing loss or deafness
  • 583.9 With unspecified pathological lesion in kidney Glomerulitis NOS, Glomerulonephritis NOS, Nephritis NOS, Nephropathy NOS
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**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.


  1. Dureau, P., et al., (2001) Ophthalmology 108(10):1912-1916
  2. Eccles MR., et al., (1999) Clin Genet 56:1-9
  3. Cunliffe HE., et al., (1998) J Med Genet 35:806-812
  4. Raca G., et al., (2011) Genetics in Medicine 13(5):437-442