Neurogenetics

Identifying a precise genetic cause of hearing loss impacts clinical management. Nicole Boczek, Ph.D., and Melanie Meyer, M.S., CGC, explain how Mayo Clinic Laboratories' updated panel yields comprehensive results for optimal patient care.

Angela Pickart, M.S., CGC, and Emily Lauer, M.S., CGC, explain how Mayo Clinic Laboratories' multigene panel helps identify the cause of hereditary ataxia. Precise diagnosis of this complex movement disorder helps guide patient treatment and family screening.

Zhiyv (Neal) Niu, Ph.D., and Rodolfo Savica, M.D., Ph.D., explain why Mayo Clinic Laboratories' gene panel is the most comprehensive test available for inherited Parkinson's disease. The new panel covers all mutations known to cause the condition — or increase the risk of developing it.

Zhiyv (Neal) Niu, Ph.D., and Christopher Klein, M.D., explain how Mayo Clinic Laboratories' updated neuromuscular gene panel informs diagnosis and treatment. The phenotype-based panel covers the complete list of neuromuscular genes and their variants.

Nicole Boczek, Ph.D., and Sarah Barnett, M.S., CGC, explain how Mayo Clinic Laboratories' whole genome sequencing provides comprehensive information for rapid diagnosis of hereditary disorders.

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.

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.

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.

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.

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.

Life with an inherited disease sometimes brings unexpected twists and turns. Learn how five-year-old Gus Erickson has navigated the gyrations with the help of Mayo Clinic’s Neurofibromatosis Clinic.