Hereditary Epilepsy

Comprehensive mutation and copy number variation analysis

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

Hereditary Epilepsy Test menu

Hereditary Epilepsy

Key testing

Additional testing


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.
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