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 rxSEEK™ Epilepsy?
rxSEEK™ Epilepsy tests an individual’s ability to metabolize anti-epileptic drugs (AEDs) based on the haplotype sequence of certain liver enzymes involved in drug and chemical metabolism. The report contains:
- Easy-to-read classification of the common anticonvulsants and benzodiazepines used according to the patient’s metabolism profile for each drug
- Dosing guidance for each drug, including potential interactions with other drugs (efficacy and/or toxicity)
How does rxSEEK™ Epilepsy help guide Treatment Choices?
Early identification of individual’s susceptibility to adverse effects of anti-epileptic drugs (AEDs) provides powerful information to physicians in determining an effective course of treatment. Additionally, recent research has suggested that patients who experience fewer side effects are more likely to comply with therapy regimens.
What is the unique advantage of rxSEEK™ Epilepsy 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.
rxSEEK™ Epilepsy 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 rxSEEK™ Epilepsy 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 the rxSEEK™ Epilepsy result to be out?"]4-6 weeks[/accordion-item] [/accordion] [accordion] [accordion-item title="What does the rxSEEK™ Epilepsy result reveal a patient?"] The test reveals any susceptibility to adverse reactions to commonly used anti-epileptic drugs (AEDs)[/accordion-item] [/accordion] [accordion-item title="What symptoms/syndromes indicate that a patient is suitable for an rxSEEK™ Epilepsy test?"](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]