Hereditary epilepsy

Epilepsy is a neurological disorder that is characterized by recurrent and usually unprovoked seizures. To determine a molecular etiology for heterogenous epilepsy and seizure disorders, a comprehensive diagnostic genetic test is useful.

Advanced mutation and copy number variation analysis

We offer the most in-depth mutation and copy-number variant (CNV) analysis using next-generation sequencing (NGS) to help establish a diagnosis and long-term prognosis as well as determine potential treatment options. Interpretation by Mayo Clinic experts and the availability of in-house confirmatory biochemical assays adds additional value to our test offering.

Expertly curated panels

Complete and high density coverage

Comprehensive CNV analysis

Our panel focuses on genes with a clinical significance that are
known to be causal when mutated in epilepsy. These genes
are reviewed and vetted by Mayo Clinic epileptologists and
geneticists to ensure the mutations discovered are actionable
and have been previously reported in multiple families, thereby
reducing the noise of false-positive or ambiguous results.

We are the only laboratory offering greater than 100x coverage
for every base at each exon in every gene. This ensures the
highest possible sensitivity for the detection of sequence-level
mutations, which reduces false-negative results.

Overall, CNVs account for 10–20% of all pathogenic mutations
associated with epilepsy.* Using an internally developed
algorithm for CNV detection, and leveraging our high depth of
coverage, we demonstrated 100% sensitivity and greater than
99.9% specificity for the detection of CNVs across a very large
sample set during the validation of our test.

Interpretation by Mayo Clinic experts

The primary goal of our clinical reports is to communicate the test results and their meaning for the patient in a clear and concise manner that is easily digestible by the clinicians who order our test. We have a dedicated team of laboratory directors and genetic counselors who specialize in the interpretation of genetics for neurological disorders.

Our primary goal as a laboratory is to ensure that the right test is performed on the right patient at the right time. We leverage the expertise of our lab-based genetic counselors to support these goals throughout the entire process from test ordering to variant interpretation and test reporting.

Which test should I order?

ESPAN | Epilepsy/Seizure Genetic Panels by Next-Generation Sequencing (NGS), Varies

  • Early Epileptic Encephalopathy Panel (90 genes)
  • Encephalopathy with Seizures Panel (129 genes)
  • Epilepsy Expanded Panel (192 genes)
  • Epilepsy with Migraine Panel (7 genes)
  • Febrile Seizure Panel (9 genes)
  • Focal Epilepsy Panel (16 genes)
  • Infantile Spasms Panel (17 genes)
  • Neuronal Migration Disorders Panel (29 genes)
  • Progressive Myoclonic Epilepsy Panel (27 genes)
  • Tuberous Sclerosis Panel (2 genes)

Custom Gene-Ordering Tool (Custom Panels/Stand-Alone Gene Ordering)

A Test in Focus

Christopher Klein, M.D., and Erik Thorland, Ph.D., give an overview of the new hereditary epilepsy panels . They discuss the Mayo Clinic testing approach, interpretation and results, and custom gene ordering