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

In about half of patients with epilepsy, the condition has no identifiable cause. For the other half, the condition may be traced to a variety of factors. Mayo Clinic Laboratories offers testing that identifies genetic and autoimmune causes of epilepsy. With testing developed by neurologists, epileptologists, and geneticists, physicians can determine the causes of epilepsy in their patients and identify potential treatment options.

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.

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

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.

Learn more
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.

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).

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

This “Specialty Testing” webinar will discuss the collaborative effort which led to the discovery of Kelch like protein 11 (KLHL11) IgG as a specific biomarker of neurological autoimmunity associated testicular germ cell tumor.

Antibody Prevalence in Epilepsy and Encephalopathy (APE2) Score

In this month’s “Hot Topic,” Divyanshu Dubey, M.B.B.S., discusses how patients with encephalopathy and/or epilepsy of unknown etiology may have an autoimmune or paraneoplastic cause.

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