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Mayo Clinic Laboratories > Neurology > Epilepsy

Epilepsy

Answers From the Lab Assay identifies biomarker of autoimmune encephalitis subtype
Video Diagnostic Exploratory Testing
Video Predictors to Direct Neural Antibody Testing in Autoimmune Encephalitis/Epilepsy

Identifying genetic and autoimmune causes

About half of patients with epilepsy lack a clear, identifiable cause. For the other half, the condition may be traced to a variety of factors. Mayo Clinic Laboratories' epilepsy testing is part of a precision medicine approach that combines diagnostic testing with pharmacogenomic (PGx) testing and therapeutic drug monitoring (TDM) to personalize diagnosis and treatment selection and maximize therapeutic response.  

Our genetic and autoimmune epilepsy testing was developed by neurologists, epileptologists, and geneticists, and can help determine the correct cause of epilepsy and set patients on the best treatment path.

Autoimmune epilepsy Autoimmune epilepsy
autoimmune epilepsy

As an increasingly recognized condition, identification of autoimmune epilepsy is crucial because patients may benefit from immune suppression, while traditional antiepileptic therapy may not be effective. We offer a comprehensive analysis of multiple neural antibodies with known association to epilepsy.

Hereditary epilepsy Hereditary epilepsy
Hereditary epilepsy

We perform next-generation sequencing with copy number variant analysis of genes associated with Mendelian forms of epilepsy with the potential to inform clinical management. Our panels have been vetted by a team of epileptologists and board-certified geneticists to only include genes with a definitive association with epilepsy.

Precision epilepsy therapeutics Precision epilepsy therapeutics
Precision epilepsy therapeutics

Since many individuals have genetic variations that influence how they respond to specific medications, determining a patient’s genetic profile allows for more precise medication selection. Integrating pharmacogenomic (PGx) testing with therapeutic drug monitoring (TDM) offers personalized insights to optimize treatment and help prevent adverse drug reactions.

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.

News and updates

The latest

Whole Exome Sequencing Reflex Test Offers Cost-Effective Diagnosis: Cherisse Marcou, Ph.D., and Kristen Rasmussen, M.S., CGC featured image
Whole Exome Sequencing Reflex Test Offers Cost-Effective Diagnosis: Cherisse Marcou, Ph.D., and Kristen Rasmussen, M.S., CGC

Cherisse Marcou, Ph.D., and Kristen Rasmussen, M.S., CGC, explain how Mayo Clinic Laboratories' WESPR whole exome sequencing reflex test provides cost-effective diagnosis of complex genetic conditions. Using samples and data from previous targeted gene panels, WESPR's wider net can identify undetected genetic variants.

Learn more
Updates Streamline Autoimmune Neurology Testing: Anastasia Zekeridou, M.D., Ph.D.

Anastasia Zekeridou, M.D., Ph.D., explains how Mayo Clinic Laboratories' updated panels and methodology boost the accuracy and efficiency of testing for three autoimmune neurology biomarkers. Early diagnosis is key to managing debilitating conditions associated with these antibodies.

Tests Aid Diagnosis of Cancer-Associated Neurological Disorders: Divyanshu Dubey, M.B.B.S.

Divyanshu Dubey, M.B.B.S., explains how Mayo Clinic Laboratories' unique PDE10A and TRIM46 tests facilitate the management of central nervous system disorders triggered by cancers. Early diagnosis and treatment are important for managing disabling neurological symptoms and malignancy.

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).

Predictors to Direct Neural Antibody Testing in Autoimmune Encephalitis/Epilepsy

In this “Hot Topic,” Divyanshu Dubey, M.B.B.S., associate professor of laboratory medicine and pathology and neurology at Mayo Clinic, discusses various clinical and paraclinical features of autoimmune encephalitis, autoimmune seizures, and epilepsy.

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.

Unraveling a diagnostic mystery: Ed Garber

Ed Garber spent months in physical and neurological decline while a cohort of care providers and specialists searched for the root cause of his symptoms. That search for answers ended after testing by Mayo Clinic Laboratories gave them the confirmatory diagnosis they needed.

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.

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.

Kelch-like protein 11 autoantibodies: A novel biomarker of testicular cancer associated neurological autoimmunity

The discovery of Kelch like protein 11 (KLHL11) IgG as a specific biomarker of neurological autoimmunity associated testicular germ cell tumor.

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