Polycystic Kidney Disease Panel

Conncurent analysis of multiple genes associated with polycycstic kidney disease, characterized by multiple cysts in the kidney or other extarenal features. This test includes evaluation for the contiguous gene deletion involving the PKD1 and TSC2 genes.

NY Approved

Test Overview

Clinical Utility

  • Molecular confirmation of a clinical diagnosis
  • Development of appropriate evaluation and management plan
  • Evaluation of family members as possible donors for kidney transplantation
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Genetic counseling, especially recurrence risk

Test Details

Genes

GANAB, HNF1B, PKD1, PKD2, PKHD1, PRKCSH, TSC2

Conditions

  • Autosomal Dominant Polycystic Kidney Disease
  • Autosomal Recessive Polycystic Kidney Disease
  • Polycystic Kidney Disease

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering Information

Important Information

This test is designed to identify a contiguous gene deletion involving PKD1 and TSC2, not to identify sequencing and exon-level copy number variants of TSC2. Sequencing of the PKD1 gene is challenging due to high homology with six known pseudogenes (exons 1-33). Accordingly, PKD1 variants are confirmed by long-range, nested PCR and capillary sequencing. For deletion/duplication analysis, Multiplex Ligation-Dependent Probe Amplification (MLPA) is performed.

Test Code: TG22
CPT Codes*: 81404x1, 81405x1, 81406x2, 81407x1, 81408x1, 81479x2
ABN Required: No
Turnaround Time**: 4-6 weeks
Preferred Specimen: 2-5 mL Blood - Lavender Top Tube
Alternative Specimen: Buccal Swabs | Extracted DNA

*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.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.

Resources

Test Documents

Billing

Targeted Variant Testing

FAQs