epiSEEK® Comprehensive

by Courtagen Life Sciences, Inc.

What is epilepsy?

Epilepsy is defined by the occurrence of at least two unprovoked seizures occurring more than 24 hours apart. Seizures are caused by a sudden and abnormal pattern of electrical activity in brain cells. An estimated 65 million individuals worldwide currently live with epilepsy, with men, women, and children of all ethnic backgrounds equally at risk.

Symptoms of Epilepsy

In many cases, seizures result in convulsions and loss of consciousness. Seizures may also present in other ways that affect personality, mood, memory, sensation, and/or movement. Blank stares, intermittent eye movements, and rapid involuntary movements of the extremities are examples of possible displays of seizures.

Benefits of Genetic Testing for Epilepsy

Knowing the genetic basis of a patient’s epilepsy is valuable for

  • Obtaining a definitive diagnosis
  • Distinguishing between syndromic and non-syndromic forms of epilepsy
  • Estimating prognosis
  • Determining recurrence risks
  • Guiding treatment choices

Guiding Treatment Choices

Knowledge of the genetic cause of epilepsy may guide selection of the most appropriate treatment options in some cases. The specific type and cause of seizures may influence the selection of antiepileptic medication for a patient. For example, certain medications may be contraindicated for patients with a specific genetic diagnosis (see list of treatment implications – file epiSEEK® Treatment Implications). Dietary modifications including the ketogenic diet are useful in certain conditions such as for patients with GLUT1 deficiency, glucose transporter type 1 deficiency syndrome (SLC2A1 gene).

What is the unique advantage of epiSEEK® Comprehensive Sequence Analysis from Courtagen?

Courtagen’s epiSEEK® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders provides the most extensive genetic analysis and clinical interpretation of 489 genes associated with seizure disorders. This next generation sequencing test incorporates the most current and comprehensive list of genes implicated in epilepsy, including genes such as those involved in voltage gated ion channels, GABA receptors, errors of metabolism, congenital disorders of glycosylation, and cytochrome p450 targets involved in drug metabolism.

epiSEEK® Comprehensive Sequence Analysis FAQs

[accordion][accordion-item title="How do I order a test?"]Please contact us and let us know if you would like to order a test for a patient. One of our representatives will get in touch with you and advise on the workflow, and provide the necessary forms and sample collection kits. Once the samples have been collected, we will coordinate the shipment of the sample to the laboratory. Once testing is completed, the report will be sent to you.[/accordion-item][accordion-item title="How is the epiSEEK® Comprehensive Sequence Analysis performed?"]This test is designed to sequence the exons and canonical splice sites (+/-1,2) of a panel of 489 genes associated with epilepsy and seizure disorders. Genomic DNA is extracted from the submitted sample (typically saliva), and captured with an inversion probe method for the genes specific to this panel. The captured targets are sequenced on the IlluminaMiSeqnext generation sequencing system with 250bp paired-end reads. Utilizing Courtagen’s customizedZiPhyr® informatics pipeline and thorough clinical evaluation, each report is provided in a concise format with interpretation and recommendations for physician consideration.[/accordion-item] [accordion-item title="How long does it take for an epiSEEK® Comprehensive Sequence Analysis result?"]4-6 weeks[/accordion-item] [/accordion] [accordion] [accordion-item title="What does an epiSEEK Comprehensive Sequence Analysis result tell a patient?"] Courtagen’s bioinformatics and clinical teams complete an analysis of the genetic variants identified from the patient sample and correlate clinical genotype/phenotype information to provide a clinical report for the patient’s physician. Variants may be classified as positive (known disease causing mutation associated with epilepsy), negative (no disease causing mutations identified), or variant of unknown significance (VUS). A VUS indicates that a genetic variant was identified, but information is insufficient, and it is unclear if the variant has clinical significance. Additional testing of family members may be requested for further interpretation. Identifying the genetic basis of a patient’s epilepsy is valuable for

  • Obtaining a definitive diagnosis
  • Distinguishing between syndromic and non-syndromic forms of epilepsy
  • Estimating prognosis
  • Determining recurrence risks
  • Guiding treatment choices

[/accordion-item] [/accordion] [accordion-item title="What symptoms/syndromes indicate that a patient is suitable for an epiSEEK test?/ Who is epiSEEK appropriate for?"](see symptoms of epilepsy) Genetic testing is appropriate for anyone with a suspected genetic cause of their epilepsy. Genetic forms of epilepsy can present with generalized, focal, or even multiple seizure types. Most genetic forms of epilepsy begin in infancy, childhood, or adolescence. [/accordion-item]