Invitae, BioMarin, and Xenon Pharmaceuticals Inc. have partnered to offer Invitae's comprehensive epilepsy panel to any child under 5 years (<60 months) of age 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.1
When a patient presents with seizures, genetic testing may help identify if there is an underlying genetic cause.
Many of these genetic variants are tied to actionable medical management.
Identifying a seizure’s underlying etiology may enable disease-specific management strategy.1
Delay can be devastating for patients with genetic epilepsy.
Early diagnosis is critical. Genetic testing can help identify the cause of epilepsy before a patient experiences the hallmark signs of regression.2
Genetic epilepsies may be hiding behind non-specific symptoms.
Language delay and motor disturbance may be useful predictors of finding genetic epilepsies.3
Collect a specimen
To request a specimen collection kit please call 1800-961-370 or send an email to firstname.lastname@example.org and reference BTS Australia.
Label the sample tube with the patient’s full name, date of birth, and sample collection date.
For additional information see specimen and shipping requirements.
Once Invitae receives the sample, you will receive the results in 10-21 calendar days, on average.
If you created an online account, you can view the status of your order by logging into your account.
You will receive a notification email once the test results are ready.
Among nearly 10,000 patients with epilepsy, 14.9% to 24.4% received a definitive molecular diagnosis from lnvitae genetic testing.4
More than half of these diagnoses were in children younger than 5 years.4
Precision medicine implications were identified in 33% of individuals with a positive test result.4
Invitae Corporation (NYSE: NVTA) is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website at invitae.com.
BioMarin and Invitae started the Behind the Seizure program in 2017 to bring clinicians closer to understanding what's causing their patient's epilepsy. BioMarin is a world leader in developing and commercializing innovative biopharmaceuticals for rare diseases driven by genetic causes. With more than 2,500 employees and global sales from 70 markets worldwide, BioMarin is recognized as an industry leader in getting therapies to market quickly and for our ongoing investment in research and development. BioMarin has 7 approved medicines considered to be first-in-class and best-in-class therapies for rare diseases—no patient population is too small. BioMarin is excited to bring their experiences and capabilities to CLN2 disease. Visit www.BioMarin.com to learn more.
Xenon is focused on developing innovative therapeutics to improve the lives of patients with neurological disorders. Building upon our extensive knowledge of diseases caused by mutations in ion channels, Xenon is advancing a novel product pipeline of neurology therapies to address areas of high unmet medical need, such as epilepsy, migraine and pain.
Pal DK, Pong AW, Chung WK. Genetic evaluation and counseling for epilepsy. Nat Rev Neurol. 2010;6:445-53.
Nickel M, et al. Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: An observational cohort study. Lancet Child & Adolescent Health. 2018;2(8):582-90.
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.
Truty R, et al. Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy. Epilepiya Open. 2019;10:283