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:
Key testing
Comprehensive evaluation for kidney disease
NEPHP | Comprehensive Nephrology Gene Panel, Varies
Disease-focused panels
ALAGP | Alagille Syndrome Gene Panel, Varies
ALPGP | Alport Syndrome Gene Panel, Varies
CASRG | CASR Full Gene Sequencing with Deletion/Duplication, Varies
RBART | Bartter Syndrome Gene Panel, Varies
Customized nephrology gene panels
CGPH | Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies
Cystic kidney disease
CKDGP | Cystic Kidney Disease Panel, Varies
ADPKP | Focused Autosomal Dominant Polycystic Kidney Disease Gene Panel, Varies
Hereditary causes of kidney stones
RSCGP | Nephrocalcinosis, Nephrolithiasis, and Renal Electrolyte Imbalance Gene Panel, Varies
Hereditary causes of FSGS and nephrotic syndrome
RFSGS | Focal Segmental Glomerulosclerosis (FSGS) and Nephrotic Syndrome Gene Panel, Varies
APOL1 | APOL1 Genotype, Varies
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.
References