epiSEEK® Focus

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.

What are the 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.

What are the 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

How does epiSEEK® Focus help guide 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*. 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).

*Do contact us if you would like to see the list of treatment implications.

What is the unique advantage of epiSEEK® Focus test from Courtagen?

Courtagen’s proprietary DREAM PCR process ensures superior lab decontamination and long sequencing reads result in exceptional coverage and sensitivity for the target genes in each panel. Courtagen’s high quality coverage exceeds that of shorter sequencing read tests and lower coverage whole exome sequencing (WES) approaches.

Courtagen’s Clinical Team has over 25 years of experience in treatment and genetic interpretation of neurological disorders, and results are delivered in a concise clinical report to help determine diagnosis and assist with decisions about treatment and disease management.

epiSEEK® Focus 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 epiSEEK®Infancy and Childhood Epilepsy test performed?"]This test is designed to sequence the exons and canonical splice sites (+/-1,2) of a panel of 71 genes highly associated with infancy and child onset 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 IlluminaMiSeq next generation sequencing system with 250bp paired-end reads. Utilizing Courtagen’s customized ZiPhyr® 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® Infancy and Childhood Epilepsy result?"]4-6 weeks[/accordion-item] [/accordion] [accordion] [accordion-item title="What does an epiSEEK® Infancy and Childhood Epilepsy result tell a patient?"] Courtagen’s bioinformatics and clinical teams complete an analysis of the genetic variants (in the 71 gene panel) 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. If test results are negative for the epiSEEK® Infancy and Childhood Epilepsy Panel (71 genes), the epiSEEK Comprehensive Sequence Analysis (489 genes) is available for further testing. 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

If test results are negative for the epiSEEK® Infancy and Childhood Epilepsy Panel (71 genes), the epiSEEK Comprehensive Sequence Analysis (489 genes) is available for further testing. [/accordion-item] [accordion-item title="What symptoms/syndromes indicate that a patient is suitable for an epiSEEK® Infancy and Childhood Epilepsy test?/ Who is epiSEEK® appropriate for?"](see symptoms of epilepsy) Genetic testing is appropriate for anyone with a suspected genetic cause of their epilepsy. The 71 gene panel is focused on the subset of genes most highly correlated to infancy and childhood onset 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][/accordion]