epiSEEK® Spotlight™ Panels

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 is epiSEEK® Spotlight™ Panels?

Courtagen’s epiSEEK® Spotlight Panels is a symptom-based Panels for Treatable Disorders. Each of the 14 epiSEEK® Spotlight Panels contains genes selected from Courtagen’s larger epiSEEK® Comprehensive Epilepsy and Seizure Disorder panel, and they cover a range of seizure disorders, including Absence Seizures, Aicardi-Goutieres Syndrome, Benign Epilepsies, Brain Malformation Seizures, Early Infantile Epileptic Encephalopathy (EIEE), Fever Sensitive Seizures, Focal Seizures, Infantile Spasms, Joubert Syndrome, Myoclonic A (Progressive), Myoclonic B, Neonatal Seizures, Treatable Seizures A (Medications), and Treatable Seizures B (Other Treatments).

How can epiSEEK® Spotlight™ Panels help me manage my child’s condition?

Identifying the genetic cause of your child’s epilepsy is important for several reasons, such as to help with treatment decisions and to provide information for family members about their chance to develop epilepsy. Here is a list of ways that genetic testing for epilepsy may benefit you and your family:

  • Confirms your diagnosis of a particular type of epilepsy
  • Assists with decisions about epilepsy treatment, such as medication or diet recommendations based on genetic findings
  • Provides information about associated neurological or other health problems that you may experience in the future
  • Helps clarify the prognosis for your child’s epilepsy

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.

What is the unique advantage of epiSEEK® Spotlight™ Panels 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.

FAQ’s

[accordion] [accordion-item title="What is the process to submit a DNA sample for genetic testing?"]The process begins with your physician placing a test request. The lab will not accept a sample without a requisition from a licensed physician. Once a test requisition is received, a sample collection kit will be sent to your physician. The instructions for using our collection kit are here and are also included in every kit. The sample will be sent to the Courtagen Laboratory. Once testing is complete, Courtagen will provide a report to the ordering physician.[/accordion-item][accordion-item title="Can I use any other sample collection kit that is not provided by Courtagen?"]No! Our processes have been optimized and validated with the kits we provide.[/accordion-item][accordion-item title="If my physician ordered more than one test for me, do I have to provide a tube of saliva for each test?"]No. A single saliva collection will normally provide enough DNA to complete multiple tests. If we determine that we do not have enough DNA to perform the tests requested by your ordering physician, we will contact your physician to collect more sample.[/accordion-item] [accordion-item title="Which completed forms must accompany my sample?"]The patient must submit a completely filled out and signed Informed Consent Form with their sample submission. The consent form will be used to match your sample to the ordering physician’s test requisition. Samples received without these forms cannot be processed.[/accordion-item] [accordion-item title="Who will receive the test results?"]Courtagen will provide your test report to the physician or healthcare professional who ordered the test.[/accordion-item] [accordion-item title="Why are the results of testing sent directly to the ordering physician rather than the patient or parent of a patient?"]Results are sent to the physician or healthcare professional to provide the physician with the opportunity to discuss the result interpretation and any follow-up testing with you.[/accordion-item][/accordion]