Cystic Kidney and Liver Diseases Panel

Concurrent analysis of multiple genes associated with cystic kidney and liver disease, characterized by development of cysts in the kidney and/or liver as well as other organ systems.

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/liver 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

AHI1, ALG8, ALG9, ANKS6, BICC1, CC2D2A, CEP120, CEP290, CEP83, COL4A1, CRB2, CSPP1, GANAB, GLIS2, GLIS3, HNF1B, IFT172, INVS, IQCB1, JAG1, LRP5, MKKS, MKS1, NEK8, NOTCH2, NPHP1, NPHP3, OFD1, PAX2, PKD1, PKD2, PKHD1, PMM2, PRKCSH, RMND1, RPGRIP1L, SEC61A1, SEC63, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TSC1, TSC2, TTC21B, UMOD, VHL, WDR35

Conditions

  • Autosomal Dominant Polycystic Kidney Disease
  • Autosomal Recessive Polycystic Kidney Disease
  • Joubert Syndrome
  • Medullary Cystic Kidney Disease
  • Nephronophthisis
  • Polycystic Kidney Disease
  • Polycystic Liver Disease
  • Tuberous Sclerosis Complex (TSC)
  • Von Hippel-Lindau syndrome

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering Information

Important Information

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: TG23
CPT Codes*: 81403x1, 81404x2, 81405x2, 81406x2, 81407x1, 81408x2, 81479x3
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