Neurology – Epilepsy panel
Epilepsy is a common neurological disorder characterized by recurrent seizures. It has an estimated prevalence of about 0.08% and a lifetime cumulative incidence of about 3%.
Approximately 60% of epilepsy cases have no cause other than a genetic predisposition, while the rest are due to a major acquired cause.
However, the probability of a genetic cause of epilepsy is often underestimated in routine clinical practice. Thus, genetic testing can be useful in order to facilitate appropriate counseling. In some patients, it can also help guiding the treatment and predict the risk of being affected for asymptomatic relatives.
How does it work ?
- Stage 1: Patient identification
– Discussion of personnal and family history
Eplanation of genetic testing options
- Stage 2: Sample submission
– The patient’s sample and necessary paperwork are sent to the laboratory
- Stage 3: Genetic testing – At the laboratory, genetic testing for most genes includes next-generation sequencing and/or exon aray analysis
- Stage 4: Genetic test results –
Contains information on the results of the genetic test and available medical management options.
The final report is sent to the ordering Health and Prevention Center specialist
- Stage 5: Post-test discussion – Health and Prevention Center specialist discusses the test resutls, medical management options, and implication for family members with the patient
To whom it is recommended?
- Individuals with a confirmed diagnosis of epilepsy and/or suspected genetic cause of epilepsy (epileptic seizures occurring at a young age, family history, etc.)
- Relatives of an index case tested positive for a mutation-causing disease
Why choose this assay?
What is investigated?
- Targeted capture of all coding exons and exon-intron boundaries followed by NGS.
- 5-6 weeks in average. Urgent testing is available upon request.