No-cost epilepsy gene panel testing program
Invitae, BioMarin, Stoke Therapeutics, and Xenon Pharmaceuticals have partnered to offer Invitae's comprehensive epilepsy panel to any child up to 60 months old who has had an unprovoked seizure.
An epilepsy gene panel can bring you closer to understanding what’s causing your patient’s epilepsy, helping your patients and their caregivers benefit from deeper knowledge and timely care.
- More than 50% of epilepsies have some genetic basis. When a patient presents with seizures, genetic testing can help identify 100+ underlying genetic causes. Early genetic testing may be the most direct, cost-effective, and accurate diagnostic tool.1
- Many genes are actionable. Gene panels increasingly help tailor your approach—more than 20 genes have been linked to specific treatment strategies. Identifying a seizure’s underlying etiology can enable more precise treatment.
- Delay can be devastating for patients with genetic epilepsy. Some genetic epilepsies are neurodegenerative, and may initially present with subtle, non-specific symptoms like language development delay and/ or motor disturbance. Genetic testing can help identify the cause of epilepsy before a patient experiences the hallmark signs of regression.
- Genetic epilepsies may be hiding behind non-specific symptoms. Language delay and motor disturbance may be the best predictors of finding genetic epilepsies.2
1. Pal DK, Pong AW, Chung WK. Genetic evaluation and counseling for epilepsy. Nat Rev Neurol. 2010;6:445-453.
2. Miller N, Truty R, Bailey M, et al. Behind The Seizure™: A no-cost, 125-gene epilepsy panel for pediatric seizure onset between 2–4 years. Poster presented at the ACMG Annual Clinical Genetics Meeting; April 10–14, 2018; Charlotte, NC.