Mayo Clinic Laboratories > Renal > Renal genetics

Renal Genetics

Genetic testing to identify underlying heritable causes

For individuals affected by kidney disease, genetic testing can identify underlying heritable causes, enable diagnoses, and provide insights on prognosis, clinical management, and risk of recurrence. Genetic testing can also help providers understand the need for additional patient and family member testing.


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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 false 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 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. 

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, 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.

Comprehensive gene panel


Disease-focused panels

Customized nephrology gene panel

Cystic kidney disease

Hereditary causes of kidney stones

Hereditary causes of FSGS and nephrotic syndrome

  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

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