Epilepsy or epileptic seizure disorder is a chronic neurological disorder characterized by recurrent unprovoked seizures occurring more than 24 hours apart. Seizures are characterized by brief episodes of involuntary shaking that may involve a part or the entire body and sometimes are accompanied by loss of consciousness. Seizures can be broadly classified into three sub-types based on the clinical presentation, location, and extent of epileptic discharges in the brain. These are focal onset seizures, generalized onset seizures, and unknown onset seizures. Epilepsy may be an isolated neurological symptom, or it may occur as part of a more complex syndrome. Epilepsy may result from primary genetic abnormalities or secondary to well-defined structural (brain malformations) or metabolic disorders, of which, some also have underlying genetic causes. There are now over 500 genes that have been reported to be associated with either X-linked, autosomal-dominant or autosomal-recessive forms of epilepsy. Determining the molecular basis of epilepsy can help anticipate disease course and, in some cases, guide treatment. The epilepsy exome involves analysis of exome sequencing data in a predefined yet regularly updated set of genes associated with epilepsy and seizure related disorders.
Test Methods
Exome sequencing
Specimen Types Accepted
Blood
Saliva
Cultured Cells
Extracted DNA
Genes
Additional Information
Reanalysis of exome sequencing data is available upon request. Reanalysis can be performed once at no additional charge; additional charges may apply for further reanalysis requests.
Please see the Epilepsy Exome Gene List for a downloadable list of genes.