Identify genetic causes of kidney disease

Comprehensive evaluations to deepen understanding

For individuals affected by kidney disease, genetic testing can identify underlying heritable causes, enable diagnosis, and provide insights on prognosis, clinical management, and risk of recurrence. In addition, genetic testing can help providers understand the need for additional screening recommendations for patients and family members.

Because more than 10% of kidney disease cases in the United States are thought to be genetic in origin, genetic testing is suggested for all patients with chronic kidney disease. Genetic testing is strongly recommended for individuals who have a family history of kidney disease, early onset kidney disease, or additional clinical symptoms. For these patients, potentially diagnostic genetic variants are present in 40% to 70% of cases.1

By the numbers

~15%

of adults in the U.S. will develop kidney disease2

10%

of kidney disease in adults may be genetic in nature1

1/4

Up to 1 in 4 individuals with kidney disease of unknown origin may receive a diagnosis through genetic testing4




Advanced analysis to diagnose genetic disease

Mayo Clinic Laboratories’ renal genetic testing was developed by a team of Mayo Clinic nephrology and genetic experts and is among the most comprehensive diagnostic testing available. Including a 302-gene nephrology panel and nine disease-focused panels, these evaluations use next- generation sequencing to evaluate clinically relevant genes across a number of disease states. In addition, these evaluations:

  • Provide the maximum depth of coverage, highest possible detection rates, and low false negative and positive rates across all included genes.
  • Detect both small variants, including single nucleotide variants and insertions and deletions, and copy number variants.
  • Use long-range polymerase chain reaction (PCR) analysis to detect variants in rare, more technically challenging genes, such as PKD1 and PKD2.
  • Provide standard coverage of +/-10 bp flanking each coding exon and expanded coverage to detect rare, clinically actionable, intronic genetic variants. 

Key testing

NEPHP | Comprehensive Nephrology Gene Panel, Varies

  • Assesses 302 genes associated with hereditary kidney disease.

ADPKP | Focused Autosomal Dominant Polycystic Kidney Disease Gene Panel, Varies

  • Assesses eight genes associated with autosomal dominant polycystic kidney disease.

AHUGP | Atypical Hemolytic Uremic Syndrome (AHUS/Thrombotic Microangiopathy(TMA)/Complement 3 Glomerulopathy (C3G) Panel, Varies

  • Assesses 15 genes associated with atypical hemolytic uremic syndrome (aHUS), thrombotic microangiopathy (TMA), and complement 3 glomerulopathy (C3G).

ALAGP | Alagille Syndrome Gene Panel, Varies

  • Assesses two genes associated with Alagille syndrome.

CASRG | CASR Full Gene Sequencing with Deletion/Duplication, Varies

  • Assesses the CASR gene, which is associated with autosomal dominant familial hypocalciuric hypercalcemia, hypocalcemia (hypoparathyroidism), and autosomal dominant hypocalcemia with Bartter syndrome.

CKDGP | Cystic Kidney Disease Panel, Varies

  • Assesses 45 genes associated with cystic kidney disease.

RBART | Bartter Syndrome Gene Panel, Varies

  • Assesses six genes associated with Bartter syndrome.

RFSGS | Focal Segmental Glomerulosclerosis (FSGS) and Nephrotic Syndrome Gene Panel, Varies

  • Assesses 56 genes associated with focal segmental glomerulosclerosis and nephrotic syndrome.

RSCGP | Nephrocalcinosis, Nephrolithiasis, and Renal Electrolyte Imbalance Gene Panel, Varies

  • Assesses 72 genes associated with nephrocalcinosis, nephrolithiasis, and renal electrolyte imbalance.

Informed by experts, optimized for actionable answers

Renal genetic testing at Mayo Clinic Laboratories was developed in collaboration with nephrologists, renal pathologists, geneticists, genetic counselors, and laboratory scientists. The genes included in our panels were carefully vetted to ensure results are clinically actionable. To optimize test ordering for patients, we offer test utilization management services from genetic experts.

Our combined use of automated processes and manual review of each case provides efficient, high-quality results that are reported in the context of the patient information provided. Disease state experts are available for assistance with result interpretation and clinical experts are available for consultation on complex cases.


A Test in Focus

Linnea M. Baudhuin, Ph.D., and Emily K. Thoreson, M.S., CGC, explain how Mayo Clinic Laboratory's renal genetics testing provides comprehensive, accurate and actionable results. Identifying a genetic cause helps guide the complex decisions involved with treating kidney disease.

Learn more about how to order this evaluation at your institution.


References

  1. Connaughton DM, Kennedy C, Shril S, et al. Monogenic causes of chronic kidney disease in adults. Kidney Int. 2019;95(4):914-928. doi:10.1016/j.kint.2018.10.031
  2. Lata S, Marasa M, Li Y, et al. Whole-exome sequencing in adults with chronic kidney disease: A pilot study [published correction appears in Ann Intern Med. 2018 Feb 20;168(4):308]. Ann Intern Med. 2018;168(2):100-109. doi:10.7326/M17-1319
  3. Groopman EE, Marasa M, Cameron-Christie S, et al. Diagnostic utility of exome sequencing for kidney disease. N Engl J Med. 2019;380(2):142-151. doi:10.1056/NEJMoa1806891
  4. Cocchi E, Nestor JG, Gharavi AG. Clinical genetic screening in adult patients with kidney disease. Clin J Am Soc Nephrol. 2020;15(10):1497-1510. doi:10.2215/CJN.15141219