Mayo Clinic Laboratories > Neurology > Neurogenetics

Neurogenetics

Answers From the Lab Neuromuscular gene panel provides comprehensive analysis
Answers From the Lab Test assesses all inherited Parkinson's disease genes
Answers From the Lab Whole genome sequencing streamlines diagnosis

Increasing the value of genetic testing through cutting-edge, expert-backed evaluations

Our comprehensive neurogenetic test menu is backed by a multidisciplinary team of clinical neurology experts, laboratory scientists, and genetic counselors who work collaboratively to develop and implement actionable testing that delivers meaningful results. Unparalleled in scope and detail, and focused on meeting patients’ needs, our testing uses an algorithmic and phenotypic approach that ensures the right patient receives the right test at the right time. Our thoughtfully curated panels facilitate understanding of patients’ underlying diagnoses by only including clinically significant genes.

Neurogenetics TEST MENU

Chromosomal microarray Chromosomal microarray
Chromosomal microarray

Every chromosomal microarray test performed at Mayo Clinic is supported by the experience and expertise of our laboratory directors and genetic counselors, ensuring we not only provide test results but clinically actionable interpretations.

Custom gene ordering Custom gene ordering
Custom gene ordering

In instances when established test offerings do not meet your patients’ needs, custom gene ordering is available to explore potential genetic causes for a patient’s phenotype or to characterize an identified abnormality. Including curation of unique panels; adding genes or removing them from established panels; and single gene ordering, our tailored approach to testing ensures patients receive the right test. In addition, genetic counselors are available to consult on testing appropriateness. 

Genetic counselors Genetic counselors
Genetic counselors

Our genetic counselors are skilled in communicating genetic information, interpreting family history information, and identifying the potential implications of genetic testing. Through assistance with test ordering and interpretation, they help expedite diagnoses and reduce healthcare costs.

Hereditary Alzheimer’s disease and dementia Hereditary Alzheimer’s disease and dementia
Hereditary Alzheimer’s disease and dementia

We offer genetic testing for several conditions, including Alzheimer’s disease, amyotrophic lateral sclerosis, frontotemporal dementia, and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Testing can lead to a diagnosis, guide care, and inform treatment decisions.

Hereditary epilepsy Hereditary epilepsy
Hereditary epilepsy

Our comprehensive hereditary epilepsy testing was curated and vetted by a multidisciplinary team of board-certified Mayo Clinic epileptologists and geneticists to only include clinically relevant genes. We perform in-depth mutation and copy number variant analysis using next-generation sequencing (NGS) to help determine genetic causes and identify potential treatment options.

Hereditary hearing loss Hereditary hearing loss
Hereditary hearing loss

Our comprehensive 200-gene hereditary hearing loss panel uses a custom capture NGS reagent to provide maximum sequencing coverage, with the goal of identifying single nucleotide variants, small insertions and deletions, and copy number variants. For genes with suboptimal coverage, we perform supplemental testing.

Hereditary neuromuscular disease Hereditary neuromuscular disease
Hereditary neuromuscular disease

Our distinctive approach to testing for genetic neuromuscular disorders uses phenotypic information to streamline diagnosis. Phenotype-specific panels enable targeted testing, improving diagnosis and minimizing uncertain results.

Hereditary movement disorders Hereditary movement disorders
Hereditary movement disorders

Our menu of hereditary movement disorders testing includes testing for ataxia, Huntington's disease, and Parkinson's disease.  

Hereditary peripheral neuropathies Hereditary peripheral neuropathies
Hereditary peripheral neuropathies

Our hereditary peripheral neuropathy test menu includes both comprehensive and targeted NGS panels to assist in identifying genetic causes across the spectrum of peripheral neuropathies.

Mitochondrial disease Mitochondrial disease
Mitochondrial disease

We offer four molecular test options that can complement radiological and histological evaluations to confirm a mitochondrial diagnosis and identify a specific mitochondrial syndrome. Rather than a series of targeted panels or single-gene analysis, we recommend sequencing the entire mitochondrial genome and/or performing a comprehensive nuclear gene panel.

Sleep disorders Sleep disorders
Sleep disorders

Our testing to assess for narcolepsy evaluates for low concentrations of orexin-A/hypocretin-1 in cerebrospinal fluid. Sensitive and specific, this evaluation provides results that can guide appropriate treatment for patients.

Whole exome sequencing Whole exome sequencing
Whole exome sequencing

Our whole exome sequencing (WES) test investigates approximately 20,000 genes in patients with suspected hereditary disorders. WES is recommended for individuals with congenital abnormalities, as well as for patients with developmental delay or intellectual disability diagnosed prior to age 18, among others.

Whole genome sequencing Whole genome sequencing
Whole genome sequencing

Whole genome sequencing (WGS) interrogates nearly every base pair of an individual’s DNA, including the mitochondrial genome. WGS can also detect variants in the non-coding region of DNA, certain spinal muscular atrophy variants, repeat expansions, and mitochondrial variants.

Empowering providers through 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 genetic tests include supplemental assays to ensure thoroughness in areas of low coverage. Phenotype-specific panels enable targeted testing, improving diagnosis and providing peace of mind with negative test results. Expert analysis of results by our board-certified genetic counselors can help guide complementary testing options to assist in clinical interpretation.

“Our inclusive phenotype-based design is meant to simplify neurogenetic evaluation.”

Neal Niu, Ph.D., director of the Clinical Genome Sequencing Laboratory

News and updates

The latest

A journey to diagnosis: One patient’s story of resilience and hope

For many, the path to a correct diagnosis can be long and filled with uncertainty. This story highlights the resilience and determination of one patient who navigated a complex medical journey to find answers and hope at Mayo Clinic. The patient asked to remain anonymous for personal privacy reasons.

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Innovative SORD test provides clarity for two young patients: Justin Fugelsang and Zach Pedowitz

Justin Fugelsang and Zach Pedowitz have never met. Yet both young men were diagnosed with a rare form of Charcot-Marie-Tooth disease, called sorbitol dehydrogenase (SORD) deficiency, and both found clarity through Mayo Clinic Laboratories' innovative SORD testing. Their journeys inspire resilience, as Justin has channeled his emotions into guitar playing, and Zach has embraced educational leadership.

Unique Test Screens for Recently Identified Peripheral Neuropathy: Matthew Schultz, Ph.D., and Amy White, M.S., CGC

Matthew J. Schultz, Ph.D., and Amy L. White, M.S., CGC, explain how Mayo Clinic Laboratories' unique urine assay (Mayo ID: SORD) screens for peripheral neuropathy arising from SORD gene variants. Although recently identified, SORD-related peripheral neuropathy is fairly common.

A new comprehensive genetic panel redefines Parkinson’s disease diagnosis

Mayo Clinic Laboratories introduces the Inherited Parkinson’s Disease Gene Panel (Mayo ID: PARDP), a collaborative breakthrough poised to transform Parkinson’s disease diagnosis and treatment. Led by Rodolfo Savica, M.D., Ph.D., and Zhiyv (Neal) Niu, Ph.D., this comprehensive test offers unparalleled insights into Parkinson’s genetics, unveiling novel gene associations and enhancing diagnostic precision through next-generation sequencing. The panel’s capabilities include detecting subtle genetic variations and identifying familial patterns, promising personalized medicine advancements.

Comprehensive testing helps diagnose and manage rare genetic disorder: Lauri Sieben

Multiple doctors and multiple examinations could not figure out why Lauri Sieben had spent much of her life “never feeling quite right” physically. Fortunately for Lauri, that changed after her daughter Christy began working as a genetic counselor in Mayo Clinic’s Molecular Technologies Laboratory. After seeing similarities between the patient testing she was performing for the lab and the physical symptoms being experienced by her mom, Christy took a leading role in getting Lauri to undergo molecular and biochemical testing at Mayo Clinic. The results of that testing not only provided much-needed answers, but a promising path forward for Lauri.

Diagnostic Exploratory Testing

In this month's "Hot Topic," Nicole Boczek, Ph.D., assistant professor and laboratory director in the Department of Laboratory Medicine and Pathology, and Sarah Barnett, M.S., CGC, discuss diagnostic exploratory testing, explain why it’s important to the field of many specialty practice areas, and help determine which testing may be the most valuable for a given patient.

Familial Variant Targeted Testing (FMTT)

In this month's "Hot Topic," Megan Hoenig, M.S., M.P.H., CGC, a licensed and certified genetic counselor with the Division of Laboratory Genetics and Genomics at Mayo Clinic Laboratories, describes the principles and benefits of Familial Variant Targeted Testing (FMTT).

Panel pinpoints causes of genetic hearing loss: Nicole Boczek, Ph.D., and Melanie Meyer, M.S, CGC

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.

Multigene panel provides efficient ataxia diagnosis: Angela Pickart, M.S., CGC, and Emily Lauer, M.S., CGC

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.

Test assesses all inherited Parkinson’s disease genes:  Zhiyv (Neal) Niu, Ph.D., and Rodolfo Savica, M.D., Ph.D.

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.

Neuromuscular gene panel provides comprehensive analysis: Zhiyv (Neal) Niu, Ph.D., and Christopher Klein, M.D.

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.

Neuropathy and Neuromuscular Gene Panel Update

In this month's "Hot Topic," Christopher Klein, M.D., and Zhiyv (Neal) Niu, Ph.D., discuss how Mayo Clinic’s neuropathy and neuromuscular gene panels have enhanced patient care.

Whole genome sequencing streamlines diagnosis

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.

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