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.

Key testing

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.

EPPAN    | Comprehensive Epilepsy With or Without Encephalopathy Gene Panel, Varies

Includes:

CSTB    | CSTB Gene, Repeat Expansion Analysis, Varies

  • Molecular confirmation of clinically suspected CSTB-related progressive myoclonic epilepsy

HMEP    | Hemiplegic Migraine With or Without Epilepsy Gene Panel, Varies

  • Molecular diagnosis in patients with hemiplegic migraine

MCP2Z    | MECP2 Gene, Full Gene Analysis, Varies

  • Molecular diagnosis in patients with features of Rett syndrome and MECP2-related disorders

NTC3Z    | NOTCH3 Gene, Full Gene Analysis, Varies

  • Molecular diagnosis in patients with features of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and NOTCH3-related disorders

TSCP    | Tuberous Sclerosis Gene Panel, Varies

  • Designed to diagnosis in patients with features of tuberous sclerosis complex (TSC)

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

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.