• Test code: 72037
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)
  • Alternate specimens:
    Saliva, assisted saliva, buccal swab and gDNA
  • Sample requirements
  • Request a sample kit

Invitae Nephrolithiasis Panel

Test description

The Invitae Nephrolithiasis Panel analyzes genes that are associated with nephrolithiasis/kidney stone disease.

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Primary panel (35 genes)


  • Familial idiopathic hypercalciuria
  • Primary hyperoxaluria, type 1 (PH1)
  • Hypophosphatasia
  • Adenine phosphoribosyltransferase (APRT)
  • Distal renal tubular acidosis (dRTA)
  • Distal renal tubular acidosis (dRTA) with progressive nerve deafness
  • Carbonic anhydrase 2 (CA2) deficiency
  • Familial hypocalciuric hypercalcemia (FHH), autosomal dominant hypocalcemia (ADH), ADH with Bartter syndrome, neonatal severe hyperparathyroidism (NSHPT)
  • Dent disease complex
  • Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC)
  • Infantile hypercalcemia
  • Enamel-renal syndrome
  • Molybdenum cofactor deficiency
  • Primary hyperoxaluria, type 2 (PH2)
  • Primary hyperoxaluria type 3 (PH3)
  • HPRT1 deficiency which includes a spectrum of Lesch Nyhan syndrome to isolated hyperuricemia with gout
  • Bartter syndrome type 2 (BSII)
  • Xanthinuria type II
  • Lowe syndrome
  • Congenital myasthenic syndrome 22 (CMS22), hypotonia-cystinuria syndrome
  • Bartter syndrome type 1
  • Renal hypouricemia
  • Calcium oxalate urolithiasis, nephrolithiasis
  • Familial hypouricemia
  • Infantile hypercalcemia, hypophosphatemic nephrolithiasis/osteoporosis
  • Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)
  • Cystinuria, hypotonia-cystinuria deletion syndrome
  • Distal renal tubular acidosis (dRTA), dRTA with haemolytic anemia
  • Cystinuria type B
  • Hypophosphatemic nephrolithiasis and osteoporosis
  • Tubulointerstitial kidney disease (ADTKD), medullary cystic kidney disease type 2 (MCKD2)
  • Vitamin D-dependent rickets type 2A (VDDR2A)
  • Xanthinuria type I

To view the complete clinical description of this panel, click here.

Genes on the Nephrolithiasis panel can be inherited in an autosomal dominant, autosomal recessive or X-linked pattern. Several genes on the Nephrolithiasis panel can be inherited in either autosomal dominant or autosomal recessive pattern. Recessive genes are more likely to be the cause for affected infants and children and autosomal dominant inheritance for adult onset forms (PMID: 25296721, 26787776).

  1. Braun, DA, et al. Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis. Clin J Am Soc Nephrol. 2016; 11(4):664-72. PMID: 26787776
  2. Moayyeri, A, et al. Metabolomic Pathways to Osteoporosis in Middle-Aged Women: A Genome-Metabolome-Wide Mendelian Randomization Study. J. Bone Miner. Res. 2018; 33(4):643-650. PMID: 29232479
  3. Gambaro, G, et al. Metabolic diagnosis and medical prevention of calcium nephrolithiasis and its systemic manifestations: a consensus statement. J. Nephrol. 2016; 29(6):715-734. PMID: 27456839
  4. Worcester, EM, Coe, FL. Nephrolithiasis. Prim. Care. 2008; 35(2):369-91, vii. PMID: 18486720
  5. Halbritter, J, et al. Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. J. Am. Soc. Nephrol. 2015; 26(3):543-51. PMID: 25296721
  6. Sorokin, I, et al. Epidemiology of stone disease across the world. World J Urol. 2017; 35(9):1301-1320. PMID: 28213860
  7. Eggermann, T, et al. Cystinuria: an inborn cause of urolithiasis. Orphanet J Rare Dis. 2012; 7:19. PMID: 22480232
  8. Bökenkamp, A, Ludwig, M. The oculocerebrorenal syndrome of Lowe: an update. Pediatr. Nephrol. 2016; 31(12):2201-2212. PMID: 27011217
  9. Jinnah, HA, et al. The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat. Res. 2000; 463(3):309-26. PMID: 11018746
  10. Edvardsson, VO, et al. Hereditary causes of kidney stones and chronic kidney disease. Pediatr. Nephrol. 2013; 28(10):1923-42. PMID: 23334384
  11. Policastro, LJ, et al. Personalized Intervention in Monogenic Stone Formers. J. Urol. 2018; 199(3):623-632. PMID: 29061541

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below. In addition, the analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
ADCY10 NM_018417.5
AGXT NM_000030.2
ALPL NM_000478.5
APRT NM_000485.2
ATP6V0A4 NM_020632.2
ATP6V1B1 NM_001692.3
CA2 NM_000067.2
CASR NM_000388.3
CLCN5 NM_000084.4
CLDN16 NM_006580.3
CLDN19 NM_148960.2
CYP24A1 NM_000782.4
FAM20A NM_017565.3
GPHN NM_020806.4
GRHPR NM_012203.1
HOGA1 NM_138413.3
HPRT1 NM_000194.2
KCNJ1 NM_000220.4
MOCOS NM_017947.2
MOCS1 NM_001075098.3
OCRL NM_000276.3
PREPL NM_006036.4
SLC12A1 NM_000338.2
SLC22A12 NM_144585.3
SLC26A1 NM_213613.3
SLC2A9 NM_020041.2
SLC34A1 NM_003052.4
SLC34A3 NM_080877.2
SLC3A1 NM_000341.3
SLC4A1 NM_000342.3
SLC7A9 NM_014270.4
SLC9A3R1 NM_004252.4
UMOD NM_003361.3
VDR NM_001017535.1
XDH NM_000379.3