Increasing the value
of genetic testing

Accurate results
through cutting-edge
NGS testing

We offer comprehensive neurogenetic testing, backed by a multidisciplinary team of clinical neurology experts, laboratory scientists, and genetic counselors, to provide the highest standard for mutation detection for the most common hereditary neurological conditions.

Mayo Clinic Laboratories’ emphasis on algorithmic and phenotypic testing approaches ensures the right patient receives the right test at the right time.

  • The scope and detail of our neurogenetic testing is unparalleled, providing greater depth of coverage in testing areas that include mitochondrial disease, microarray, epilepsy, neuropathies and neuromuscular disorders, biochemical genetics, and muscle, nerve, and skin pathologies.
  • Our thoughtfully curated panels help facilitate clinicians’ understanding of patients’ potential underlying diagnoses by only including genes with clinical significance and by using algorithmic testing approaches.
  • Expert analysis of results by our board-certified laboratory directors and genetic counselors provides guidance on complementary testing options that assist in clinical interpretation. 


Test menu

Chromosomal microarray

Hereditary epilepsy

Hereditary hearing loss

Hereditary peripheral neuropathies

Mitochondrial disease

Neuromuscular disease

World-class
testing

Mayo Clinic experts designed our testing with a focus on both breadth and depth of coverage to ensure detection of any genetic variants present. Our carefully designed tests include supplemental assays to ensure thoroughness in areas of low coverage.

Genes with clinical significance

Well-curated panels of genes are the foundation of our genetic tests. By targeting genes with clinical significance known to play a role in neurological disease, we eliminate variants in genes of unknown significance and potentially confusing results.

A focus on test utilization

Our focus on providing the right test for the right patient underscores our belief in an algorithmic and phenotypic approach to test ordering. This approach enables clinicians to efficiently procure answers, saving time and money for their institution.

Additional resources

Mitochondrial Disease [Test in Focus]

Linda Hasadsri, M.D., Ph.D., explains how Mayo Clinic Laboratories’ inclusive approach to mitochondrial disease testing expedites diagnosis. Using innovative methodologies like custom reagents and droplet digital PCR enables precision insights on prognosis and treatment options.

By Samantha Rossi • September 28, 2021
Hereditary hearing loss [Test in Focus]

Nicole Boczek, Ph.D., co-director of Mayo Clinic's Genetics and Genomics Laboratory, explains the innovative new hereditary hearing loss panel now available through Mayo Clinic Laboratories. This comprehensive panel analyzes 160 genes associated with hereditary hearing loss, assessing for both nonsyndromic hearing loss, as well as syndromic hearing loss, which can be difficult to recognize clinically.

By Samantha Rossi • December 1, 2020
Molecular Mitochondrial Testing [Test in Focus]

The diagnosis of mitochondrial disease can be particularly challenging as the presentation can occur at any age, involve virtually any organ system, and be associated with widely varying severities. Due to the considerable overlap in the clinical phenotypes of various mitochondrial disorders, it is often difficult to distinguish these specific inherited disorders without genetic testing.

By Alyssa Frank • May 3, 2019
Hereditary Epilepsy Panels [Test in Focus]

Christopher Klein, M.D., and Erik Thorland, Ph.D., give an overview of the new hereditary epilepsy panels available through Mayo Clinic Laboratories. They discuss the Mayo Clinic testing approach, interpretation and results, and custom gene ordering.

By Alyssa Frank • December 4, 2018
Genetic Testing for Neurologic Disorders: How Can It Help You and Your Patient?

This "Specialty Testing" webinar will outline the benefits and limitations of genetic testing for neurologic disorders and provide a framework for interpretation of test results.

By MCL Education • July 12, 2018
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