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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.

10%-20%

10%-20% of pathogenic variants associated with epilepsy are CNVs^1,2

Hereditary Epilepsy Test menu

Hereditary epilepsy

Hereditary Epilepsy

Key testing

EPPAN | Comprehensive Epilepsy With or Without Encephalopathy Gene Panel, Varies
- Identifies mutations within genes known to be associated with inherited epilepsy or seizure disorder, allowing for predictive testing of at-risk family members.
- Offers greater breadth and depth of coverage for every base at each exon in every gene.
- Enables 100% sensitivity and 99.9% specificity for the detection of CNVs through use of an internally developed algorithm for CNV detection combined with a high depth of coverage.
- Includes interpretive reports to communicate test implications clearly and concisely to ordering physicians.
- Our EPPAN test includes repeat expansion analysis of CSTB.

Additional testing

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 diagnose patients with features of tuberous sclerosis complex.

Learn more 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.

References

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.
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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