Nephrolithiasis and Nephrocalcinosis Panel

Concurrent analysis of multiple genes associated with nephrolithiasis (kidney stone formation) or nephrocalcinosis (deposition of calcium in the renal parenchyma and tubules).

NY Approved

Test Overview

Clinical Utility

  • Molecular confirmation of a clinical diagnosis
  • Development of appropriate evaluation and management plan
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Genetic counseling and recurrence risk assessment

Test Details

Genes

ADCY10, AGXT, ALPL, AP2S1, APRT, ATP6V0A4, ATP6V1B1, BSND, CA2, CASR, CLCN5, CLCNKA, CLCNKB, CLDN16, CLDN19, CLPB, CYP24A1, FAM20A, GNA11, GPHN, GRHPR, HNF4A, HOGA1, HPRT1, KCNJ1, LRP2, MAGED2, MOCOS, OCRL, SLC12A1, SLC22A12, SLC26A1, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC7A9, SLC9A3R1, VDR, XDH

Conditions

  • APRT Deficiency
  • Bartter Syndrome
  • CA II Deficiency
  • Cystinuria
  • Dent Disease
  • Distal Renal Tubular Acidosis
  • Familial Hypocalciuric Hypercalcemia (FHH)
  • Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis
  • Hypophosphatasia
  • Hypophosphatemic nephrolithiasis/osteoporosis
  • Hypophosphatemic rickets
  • Idiopathic Infantile Hypercalcemia
  • Nephrocalcinosis
  • Nephrolithiasis
  • Primary Hyperoxaluria
  • Renal Hypouricemia
  • Xanthinuria

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering Information

Test Code: TH01
CPT Codes*: 81404x1, 81405x1, 81406x2, 81407x1, 81479x3
ABN Required: No
Turnaround Time**: 4 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