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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.

10%

10% of kidney disease in adults may be genetic in nature¹

15%

15% of adults in the U.S. will develop kidney disease²

~70%

~70% OF KIDNEY DISEASE IN CHILDREN MAY BE GENETIC IN NATURE³

1/4

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

RENAL GENETICS TEST MENU

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

More information

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

NEPHP | Comprehensive Nephrology Gene Panel, Varies
- Assesses 302 genes associated with hereditary kidney disease.

Highlights

State-of-the-art genetics panel optimizes kidney disease treatment

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

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Disease-focused panels

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.
ALPGP | Alport Syndrome Gene Panel, Varies
- Assesses four genes associated with Alport 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.
RBART | Bartter Syndrome Gene Panel, Varies
- Assesses six genes associated with Bartter syndrome.

Customized nephrology gene panel

CGPH | Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies
- Detects single nucleotide and copy number variants in a custom gene panel.

Cystic kidney disease

CKDGP | Cystic Kidney Disease Gene Panel, Varies
- Assesses 45 genes associated with cystic kidney disease.
ADPKP | Focused Autosomal Dominant Polycystic Kidney Disease Gene Panel, Varies
- Assesses eight genes associated with autosomal dominant polycystic kidney disease.

Hereditary causes of kidney stones

RSCGP | Nephrocalcinosis, Nephrolithiasis, and Renal Electrolyte Imbalance Gene Panel, Varies
- Assesses 72 genes associated with nephrocalcinosis, nephrolithiasis, and renal electrolyte imbalance.

Hereditary causes of FSGS and nephrotic syndrome

RFSGS | Focal Segmental Glomerulosclerosis (FSGS) and Nephrotic Syndrome Gene Panel, Varies
- Assesses 56 genes associated with FSGS and nephrotic syndrome.
APOL1 | APOL1 Genotype, Varies
- Assesses with real-time polymerase chain reaction (PCR) with allelic discrimination analysis.

References

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
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
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
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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