Renal-Coloboma Syndrome / Papillorenal Syndrome (PAX2)
Genes
Conditions
- 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
TB29
CPT Codes*
81406x1
ABN Required
No
Turnaround Time**
3 weeks
Preferred Specimen
Alternative Specimen
*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.
Test Documents
Billing
Targeted Variant Testing