Behind the Seizure®

Test early to expedite care

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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

References:
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.

Eligibility

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Panel

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Ordering instructions

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Program eligibility

  • Any child up to 60 months old who has had an unprovoked seizure

Specimen samples for this program are accepted from the US only.

Invitae Epilepsy Panel

The Invitae Epilepsy Panel offers a broad and comprehensive analysis for genetic epilepsy, which includes up to 180+ genes associated with both syndromic and non-syndromic causes of epilepsy, including neurodegenerative conditions.

Turnaround time for the panel is rapid. Once Invitae receives the sample, you will receive results within 10 to 21 calendar days, on average.

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Ordering made easy

Place your order Collect a specimen Results

To place a paper-based order, download the paper order form.

To place an order online, enter the online ordering portal.

To collect a specimen:

  1. Order a specimen collection kit
  2. Label the sample tube with the patient’s full name, date of birth, and sample collection date
  3. Include the signed eligibility criteria form with the specimen 
  4. For additional information see specimen and shipping requirements

To receive results:

  1. Once Invitae receives the sample, you will receive the results in 10-21 calendar days, on average
  2. If you created an online account, you can view the status of your order by logging into your account
  3. You will receive a notification email once the test results are ready

Support every step of the way 

Client Services

Available to answer your questions or help you through the testing process.

CONTACT

Clinical Support Services

Licensed, board-certified genetic counselors, ready to support you.

SUPPORT

Confidence begins with quality

  • Commitment to quality: Invitae’s >1000 patient peer-reviewed study, published in the Journal Molecular Diagnostics, the official journal of the Association for Molecular Pathology, shows equivalence to established standards.
  • Quick turnaround: results available within 10–21 calendar days, 14 days on average.
  • Sample options: blood, saliva, and assisted saliva kits (ideal for young children) provided free of charge.
  • Strong team: Invitae has more than 300 experts in genetics, bioinformatics, engineering, technology, and commercial development including board-certified medical geneticists with experience in diagnosing biochemical and molecular causes of epilepsy.

About Invitae

Invitae is a genetic information company whose mission is to bring genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Specializing in genetic diagnostics for hereditary disorders, Invitae is aggregating the world’s genetic tests into a single service with better quality, faster turnaround time, and a lower price than most single-gene tests today.


About BioMarin

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.

About Stoke

Launched in 2018, Stoke Therapeutics is a biotechnology company working to increase gene expression to treat a wide array of severe genetic diseases, including genetic conditions affecting the central nervous system, eye, liver and kidney. Stoke’s first development candidate is an oligonucleotide therapy for Dravet Syndrome. It’s designed to increase the expression of the Nav1.1 protein via upregulation of SCN1a expression. Stoke is also working on precision treatments for other genetic epilepsies. For more information, visit www.StokeTherapeutics.com and follow Stoke on Twitter @StokeTx.

About Xenon

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.

Behind the Seizure is a collaboration between Invitae and BioMarin, Stoke Therapeutics, and Xenon Pharmaceuticals (the Sponsors). The Sponsors provide financial support for this program while tests and services are performed by Invitae. The Sponsors receive de-identified patient data from this program, but no patient identifiable information. The Sponsors receive contact information for healthcare professionals who use this program. Participants in this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use, or support any product or service of the Sponsors.