Nephrolithiasis and Nephrocalcinosis Panel

New York
Approved

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

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

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

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Test Code

TH01

CPT Codes*

81404x2, 81405x1, 81406x2, 81407x1, 81479x1

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.

Need something else?

Search More Tests