Test Directory

Clear All
Test Code
C5335
Test Name
Nephrolithiasis And Related Disorders NGS Panel
CPT Codes
81479
Expected Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Clinical Utility
Genetic analysis to provide a molecular diagnosis of conditions that cause nephrolithiasis. Nephrolithiasis is a common condition affecting about 5 to 10% of individuals worldwide. It is multi factorial caused by both genetic and non-genetic factors including dietary and environmental factors. Mutations in the genes currently linked to nephrolithiasis are estimated to be responsible for about 15% of kidney stone cases. Recommended for individuals with a personal and/or family history of nephrolithiasis to ensure appropriate treatment and establish recurrence risk for family members.
Specimen and Container Info

Non-Prenatal Specimens

Preferred/Alternate

Specimen Type

Containers

Volume

Preferred Specimen Type

Whole Blood

Lavender Top (EDTA)

3 mL

Alternate Specimen Type

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

Alternate Specimen Type

Fibroblasts

T-25 Flasks

2 confluent T-25 flasks, filled to capacity

Alternate Specimen Type

Saliva (Whole blood is recommended for CNV)

DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children

Follow kit instructions (www.dnagenotek.com)

Prenatal Specimens

Either specimen type below is acceptable.

Specimen Type

Containers

Volume

Cultured cells

T-25 Flasks

2 confluent T-25 flasks derived from amnio or CVS samples.

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico.
Transport Instructions
  • Transport at room temperature within 24 hours.
  • If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
  • Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours. 
Stability Requirements

Room Temperature

24 hours

Refrigerated

72 hours
Causes for Rejection
  • Improperly labeled specimen (minimum of two patient identifiers)
  • Inappropriate specimen type
  • Incomplete or incorrect test request form
  • Insufficient volume
  • Specimen has leaked in transit
  • Specimen without a test order
Methodology
Next Generation Sequencing and Copy Number Variation Analysis
Performing Location
Genomics - Snowdrift
Description

Nephrolithiasis is a common condition affecting about 5 to 10% of individuals worldwide. It is multi factorial caused by both genetic and non-genetic factors including dietary and environmental factors. Mutations in the genes currently linked to nephrolithiasis are estimated to be responsible for about 15% of kidney stone cases.

Gene

Disorder

MIM

Inheritance

ADCY10

Hypercalciuria, absorptive, 2 (HCA2)

143870

AD

AGXT

Hyperoxaluria, primary, type 1 (HP1)

259900

AR

AP2S1

Hypocalciuric hypercalcemia, type III (HHC3)

600740

AD

APRT

Adenine phosphoribosyltransferase deficiency (APRTD)

614723

AR

ATP6V0A4

Renal tubular acidosis, distal, autosomal recessive (RTADR)

602722

AR

ATP6V1B1

Renal tubular acidosis, distal, with progressive nerve deafness

267300

AR

CA2

Osteopetrosis, autosomal recessive 3, with renal tubular acidosis (OPTB3)

259730

AR

CASR

Hypocalciuric hypercalcemia, familial, type I (HHC1)

145980

AD

CLCN5

Dent disease

Hypophosphatemic rickets, X-linked recessive

Nephrolithiasis, X-linked recessive, with renal failure (XRN)

Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis

300009

300554

310468

308990

XLR

XLR

XLR

XLR

CLDN16

Hypomagnesemia 3, renal (HOMG3)

248250

AR

CLDN19

Hypomagnesemia 5, renal, with ocular involvement (HOMG5)

248190

AR

CYP24A1

Hypercalcemia, infantile, 1 (HCINF1)

143880

AR

FAM20A

Amelogenesis imperfecta, type IG (AI1G)

204690

AR

GNA11

Hypocalciuric hypercalcemia, type II (HHC2)

145981

AD

GRHPR

Hyperoxaluria, primary, type II (HP2)

260000

AR

HNF4A

Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young (FRTS4)

616026

AD

HOGA1

Hyperoxaluria, primary, type III (HP3)

613616

AR

HPRT1

Kelly-Seegmiller syndrome

300323

XLR

KCNJ1

Bartter syndrome, type 2, antenatal (BARTS2)

241200

AR

OCRL

Dent disease 2

Lowe syndrome (OCRL)

300555

309000

XLR

XLR

SLC2A9

Hypouricemia, renal, 2 (RHUC2)

612076

AD / AR

SLC3A1

Cystinuria

220100

AD / AR

SLC4A1

Renal tubular acidosis, distal, autosomal dominant

Renal tubular acidosis, distal, with hemolytic anemia

179800

611590

AD

AR

SLC7A9

Cystinuria

220100

AD / AR

SLC9A3R1

Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2)

612287

AD

SLC12A1

Bartter syndrome, type 1, antenatal (BARTS1)

601678

AR

SLC22A12

Hypouricemia, renal, 1 (RHUC1)

220150

AR

SLC26A1

Nephrolithiasis, calcium oxalate (CAON)

167030

AR

SLC34A1

Hypercalcemia, infantile, 2 (HCINF2)

Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (NPHLOP1)

616963

612286

AR

AD

SLC34A3

Hypophosphatemic rickets with hypercalciuria (HHRH)

241530

AR

XDH

Xanthinuria, type I

278300

AR
Testing Schedule
Monday-Friday
Genes
ADCY10, AGXT, AP2S1, APRT, ATP6V0A4, ATP6V1B1, CA2, CASR, CLCN5, CLDN16, CLDN19, CYP24A1, FAM20A, GNA11, GRHPR, HNF4A, HOGA1, HPRT1, KCNJ1, OCRL, SLC12A1, SLC22A12, SLC26A1, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC7A9, SLC9A3R1, XDH
Disease Group
Nephrology
The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. View the Terms.
© 2026 HNL Lab Medicine. All rights reserved.