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

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.

Learn more
Carrier Screening

Linda Hasadsri, M.D., Ph.D., explains carrier screening at Mayo Clinic Laboratories. Using targeted genotyping, our three focused panels evaluate genes associated with cystic fibrosis, spinal muscular atrophy, and hemoglobinopathies, to provide clear answers on reproductive risks and to guide decision-making.

Whole exome sequencing for hereditary disorders

Cherisse Marcou, Ph.D., and Marissa Ellingson, M.S., CGC, discuss whole exome sequencing (WES) at Mayo Clinic Laboratories. The comprehensive evaluation uses next-generation sequencing to detect for single nucleotide variants, small insertions or deletions, and copy number variants on approximately 20,000 genes, enabling precision answers to accurately diagnose, manage, and treat patients with identified inherited illness.

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.

Shining light on one family’s struggle: Barbara, Deborah, Pamela, and Rylie

Before testing at Mayo Clinic Laboratories, Barbara Domaille, Deborah Neville, Pamela Neville, and Rylie Ronnenberg thought there could be a genetic connection to the hip problems they shared. After the testing, they knew for sure.

Orexin-A/Hypocretin-1 for the Diagnosis of Type 1 Narcolepsy [Test in Focus]

The standard test for the diagnosis of narcolepsy is the multiple sleep latency test (MSLT). The MSLT is a complex test to perform as well as to interpret. The orexin-A/hypocretin-1 test is a sensitive and specific alternative to the MSLT to diagnose type 1 narcolepsy.

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.

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