Where rare
is common

World-class testing for genetic disorders

Our genetic testing was developed by experienced geneticists, genetic counselors, laboratory scientists, and bioinformaticians. We focus on providing easy-to-understand answers, interpreted by those same experts, who have an intimate understanding of the testing and understand the impact the results have on patient care.

Results that matter

We're dedicated to our patients' health and well-being,
and proud of the outstanding outcomes we achieve.


new diagnoses made each year


genetic experts developing testing and interpreting results


quantitative and qualitative biochemical genetic assays performed


support from Mayo Clinic physicians and scientists

Expertise in analysis and interpretation

Genetic testing generates large amounts of complex data that require a high level of expertise to accurately assess and classify each abnormality detected. Our laboratory directors review thousands of tests each year and are actively involved in the field of genomics, helping create testing standards and shape practice guidelines.

Discovering the unknown

If further studies are necessary to clinically explore potential genetic causes for a patient’s phenotype or to characterize an identified abnormality, we offer an expansive test of exploratory genetic testing, including whole exome sequencing.

Access to Mayo Clinic expertise

Our laboratories operate as an interdisciplinary group of physicians, scientists, genetic counselors and laboratory professionals working in a state-of-the-art environment. This
team provides testing and result interpretation of the highest quality for the diagnosis and clinical care of patients.

Whole exome sequencing for hereditary disorders

Cherisse Marcou, Ph.D., co-director of the Clinical Genomics Laboratory, and Marissa Ellingson, M.S., CGC, laboratory genetic counselor, discuss whole exome sequencing at Mayo Clinic Laboratories. The comprehensive evaluation uses next-generation sequencing to detect for single nucleotide variants, small insertions or deletions, deletion-insertions, and copy number variants in approximately 20,000 genes, enabling precision answers to accurately diagnose, manage, and treat patients with identified inherited disorders.

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