Advanced mutation and copy number variation evaluation    

Comprehensive analysis for definitive results

We perform in-depth mutation and copy number variant (CNV) analysis using next-generation sequencing (NGS) to help determine causes of epilepsy and identify potential treatment options. Interpretation by Mayo Clinic experts and the availability of in-house confirmatory biochemical assays add value to our test offering.

Expertly curated panels


Our panels were carefully curated and vetted by a multidisciplinary team of board-certified Mayo Clinic epileptologists and geneticists to only include clinically significant genes known to be causal for epilepsy when mutated. This ensures any pathogenic variants identified are actionable and reduce the noise of false positive or ambiguous results.

Complete and high-density coverage


Our laboratory testing offers greater breadth and depth of 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.

Comprehensive CNV analysis


CNVs account for 10% to 20% of all pathogenic mutations associated with epilepsy.1,2 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 large sample set during test validation.

Interpretation by Mayo Clinic experts

The primary goal of our clinical reports is communicating test results and their implications to patients in a clear, concise manner that is easily digestible by ordering clinicians.

  • Our dedicated team of laboratory directors and genetic counselors 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?

These tests are useful for establishing a diagnosis of an epilepsy or seizure disorder associated with known causal genes, and identifying mutations within genes known to be associated with inherited epilepsy or seizure disorders, allowing for predictive testing of at-risk family members.

Includes:

Epilepsy Expanded Panel, 192 genes

Our most comprehensive panel analyzes genes associated with all causes of epilepsy

Early Epileptic Encephalopathy Panel, 90 genes

Epileptic encephalopathies are neurodevelopmental disorders caused by recurrent clinical seizures usually seen during the early infantile period

Encephalopathy with Seizures Panel, 129 genes

This panel is targeted towards those cases of encephalopathy with an onset outside of the neonatal and infantile periods

Epilepsy with Migraine Panel, 7 genes

Targeted toward epilepsy patients also experienced migraine

Febrile Seizure Panel, 9 genes

Aimed at epilepsy patients with febrile seizures, which is the most common convulsive event in childhood, that usually occur between 3 months and 5 years of age and is the presenting symptom of many clinical epilepsy syndromes

Focal Epilepsy Panel, 16 genes

For patients with focal epilepsy, a neurological disorder characterized by recurrent seizures with abnormal electrographic activity in localized brain areas

Infantile Spasms Panel, 17 genes

A panel for Infantile Spasm patients. Infantile spasms are the most frequent type of epilepsy in the first year of life.

Neuronal Migration Disorders Panel, 29 genes

Neuronal migration disorders include lissencephaly, heterotopia, polymicrogyria, schizencephaly, and focal cortical dysgenesis.

Progressive Myoclonic Epilepsy Panel, 27 genes

Progressive myoclonic epilepsies are a genetically heterogeneous group of disorders that are characterized by worsening action myoclonus, epileptic seizures, and a progressive neurologic decline.

Tuberous Sclerosis Panel, 2 genes

Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous multisystem disorder associated with mutations in the TSC1 and TSC2 genes.


Custom Gene Ordering

Our custom gene ordering allows the creation of a custom gene list to tailor testing to a patient’s exact need. After selection of a specific disease state, the custom gene panel can be modified to add or remove genes. Through this option, single gene testing can be performed.

Learn more about how to order these tests at your institution.

References

  1. Coppola A, et al. Diagnostic implications of genetic copy number variation in epilepsy plus. Epilepsia. 2019 Apr;60(4):689-706. doi: 10.1111/epi.14683. Epub 2019 Mar 13. PMID: 30866059; PMCID: PMC6488157.
  2. Borlot F, et al. Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability. JAMA Neurol. 2017 Nov 1;74(11):1301-1311. doi: 10.1001/jamaneurol.2017.1775. PMID: 28846756; PMCID: PMC5710585.