Redefining possible with neurology diagnostics
Where expertise and innovation meet
As research continues to propel understanding of the causes of and treatments for neurological disorders, access to objective, data-backed diagnostic tools is critical to accurately defining the disease process and managing patient care. At Mayo Clinic Laboratories, laboratory scientists and physicians are at the forefront of translating discoveries on rare and complex conditions into clinically meaningful tests that deliver life-changing answers.
Our laboratories are led by neurological testing experts with extensive experience using test results to guide patient care. These specialists work hand in hand with physicians in Mayo Clinic’s neurology practice to understand how testing can accelerate diagnosis and guide treatment for patients. The integration of the lab and the clinical practice also fuels a testing pipeline that delivers actionable answers across the full range of neurological conditions.
We provide direct access to our physicians and scientists to discuss any test order, result, or diagnostic next steps for your patients.
We are at the forefront of novel biomarker research, integrating discoveries of rare disease into testing development and implementation.
Our laboratories’ unique integration with Mayo Clinic’s neurology practice provides advantages that no other lab can offer.
Confidently navigating complex diagnoses
Our robust neurology test menu, which includes more than 400 highly specialized evaluations, enables physicians to order all the neurology testing they need in one place. This allows for streamlined, cost-effective answers across the neurological disease spectrum. Much of our testing is guided by an algorithmic approach, which simplifies ordering, eliminates unnecessary testing, expedites results, and, most importantly, improves patient experiences.
“Our testing evaluations are the most comprehensive because we have the newest antibodies. When you look at the 30-plus antibodies that our laboratory tests for, many of those tests are only available at Mayo Clinic. We pride ourselves on constantly being at the forefront, providing these novel antibodies as soon as we can. And that has really driven the field forward.”
John Mills, Ph.D., co-director of the Neuroimmunology Laboratory in the Department of Laboratory Medicine and Pathology
Central nervous system demyelinating disease
Our approach to evaluating central nervous system (CNS) demyelinating disease involves synchronized testing to identify which antibody is driving the harmful autoimmune response. Sensitive and specific, our testing can help diagnose a range of demyelinating diseases with overlapping symptoms, such as classic multiple sclerosis (MS), atypical MS, AQP4 antibody (NMOSD) and MOG antibody (MOGAD) associated disorders, and spinal cord disorders.
- Unique in the market, our gold-standard fluorescence-activated cell sorting (FACS) live cell-binding assay for immune-mediated CNS demyelinating disease offers superior sensitivity and specificity.
- Myelopathy testing assesses for relapsing autoimmune meningoencephalomyelitis.
- MS testing that includes kappa free light chains, which have been newly incorporated in the McDonald criteria.
Dementia
Our industry-leading dementia test menu offers the most sophisticated suite of testing available. Because treatments are available for Alzheimer’s disease and some types of autoimmune dementia, including rapidly progressive dementia cases that can potentially be reversed, early diagnosis can improve some patients’ outcomes.
- Blood- and cerebrospinal fluid-based biomarker testing for Alzheimer’s disease.
- Dementia with Lewy bodies and Parkinson’s disease dementia testing.
- Rapidly progressive dementia panel for the detection of prion disease, including Creutzfeldt-Jakob disease.
- Autoimmune dementia antibody evaluations.
- Genetic dementia testing.
Encephalopathy
Many cases of encephalopathy previously considered infectious are now recognized to have an autoimmune cause. Our full suite of encephalopathy testing can help pinpoint causes and facilitate personalized therapy selection.
- Comprehensive autoimmune panel.
- Metagenomic sequencing for infectious causes.
- Encephalopathy with seizures GABA-A receptor antibody analysis.
- Testicular cancer-associated paraneoplastic encephalitis related to KLHL11 antibodies and Ma-2 antibodies.
Epilepsy
While approximately half of patients with epilepsy lack an identifiable cause, the other half have conditions that may be traced to a variety of factors. Our expert-developed autoimmune and genetic epilepsy testing assists physicians in determining the causes of epilepsy in patients and identifying potential treatment options.
- Comprehensive neural antibody panels.
- GABA-A receptor analysis for encephalopathy with seizures.
- Next-generation sequencing (NGS) panels and single gene analysis.
- Whole genome sequencing (WGS) and whole exome sequencing (WES).
Mitochondrial disease
Our streamlined approach to mitochondrial disease testing, combined with unmatched testing expertise, helps synthesize and integrate test results. We recommend sequencing the entire mitochondrial genome and/or performing a comprehensive nuclear gene panel. Our molecular test options, which can complement radiological and histological evaluations to confirm diagnosis, employ droplet digital polymerase chain reaction (ddPCR) technology to detect mitochondrial DNA deletions and duplications. This highly sensitive technology is the only method available to enable absolute, rather than relative/indirect quantification of heteroplasmy, which reduces the risk of false-negative and false-positive results.
- Combined mitochondrial full genome and nuclear molecular panel detects mitochondrial DNA deletions and duplications.
- Comprehensive, 221-gene molecular panel.
- Biochemical options, including Mayo-developed GDF15 testing.
Movement disorders
Covering autoimmune and hereditary causes, our movement disorders testing incorporates the latest technological advancements. Through research led by clinical, lab, and genetic experts, we are actively seeking new biomarkers and genetic causes for movement disorders.
- Comprehensive, continuously updated autoimmune movement disorders panel uses advanced approaches to detect dozens of actionable antibodies.
- Focused, stiff-person disorders antibody evaluation detects the most common IgG biomarkers associated with the condition.
Neuromuscular disorders
We offer a comprehensive menu of precision assays that can help physicians diagnose and manage patients with disorders such as myasthenia gravis (MG), Lambert-Eaton syndrome (LES), immune-mediated necrotizing myopathy, Duchenne muscular dystrophy, spinal muscular atrophy (SMA), and more.
- Comprehensive and targeted NGS panels.
- Clinically relevant autoantibody profiles screen for and confirm MG and LES.
- Necrotizing autoimmune myopathy.
- Muscle and nerve biopsy consultation.
Peripheral neuropathy
Our comprehensive test menu was designed by Mayo Clinic neurology and pathology experts to provide the most clinically actionable information. Featuring assays that identify specific biomarkers associated with a harmful immune response and gene variants correlated with peripheral neuropathy, our algorithmic testing approach streamlines diagnosis to help set patients on the best treatment path.
- Clinically relevant demyelinating and axonal autoimmune and paraneoplastic antibody testing.
- Focused, autoimmune ganglioside antibody testing.
- Hereditary peripheral neuropathy testing, including Charcot-Marie-Tooth (CMT) disease.
Whole exome and whole genome sequencing
A team of experienced laboratory directors, genetic counselors, and variant scientists backs our whole exome sequencing (WES) and whole genome sequencing (WGS). Testing data is processed through Mayo Clinic’s custom AI interface, followed by interpretation of clinically relevant results by our collaborative team, who consider previous results from genetic studies, biochemical testing, and imaging studies as part of the data review. WES is also available as a reflex testing option for complicated cases that cannot be answered through targeted panels.
- Whole exome sequencing.
- Whole exome reanalysis.
- Unique dual whole exome and mitochondrial genome sequencing.
- Whole genome sequencing.
- Whole genome reanalysis.
- Comparator testing analyzes single, duos, trios, nontraditional trios, or quads.
- Industry-leading familial variant targeted testing.
Highlights
SAAmplify™-αSYN testing offers unprecedented accuracy in diagnosing Parkinson’s and Lewy body dementia.
After mysterious neurological symptoms began in 2010, Brad Karon, M.D., Ph.D., was diagnosed with paraneoplastic syndrome, a rare condition that led to groundbreaking research and test development at Mayo Clinic. Years later, pulmonary fibrosis and a double lung transplant would test him once again — and redefine his resilience.
For healthcare professionals seeking to enhance their understanding of the assessment and treatment options for patients with neurodegenerative diseases.
In this episode of “Answers From the Lab,” host Bobbi Pritt, M.D., chair of the Division of Clinical Microbiology at Mayo Clinic, and Div Dubey, M.B.B.S., a neurologist and co-director of the Clinical Neuroimmunology Laboratory at Mayo Clinic, explore the topic of peripheral neuropathy.
In this episode of “Answers From the Lab,” William Morice II, M.D., Ph.D., CEO and president of Mayo Clinic Laboratories, is joined by Russ Lebovitz, M.D., Ph.D., CEO and co-founder of Amprion. They discuss their strategic collaboration and the innovative SAAmplify™–αSYN (CSF) test.
By using a test that measures neurofilament light chain (Nfl) proteins in blood, clinicians can better diagnose devastating diseases like ALS and MS, help predict disease progression, and better assess efficacy of existing drugs and trial therapies.
After years of misdiagnosis, Tyler Hart found answers at Mayo Clinic, discovering he had NF155-IgG4 autoimmune nodopathy instead of CIDP
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.
Explore the advantages of Mayo Clinic Laboratories’ neurology testing.
Learn more about our complete menu of neurology testing. Schedule a time to discuss with one of our clinical specialists.