Sponsored, no-charge genetic testing for pediatric epilepsy

Genetic testing may 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.

Patient story: Naya Edouard

Now we can move forward

Two years after Naya started missing developmental milestones—and nearly a year after a neurologist first suggested genetic testing—the Edouard family finally has answers, thanks to the Behind the Seizure® program.

Read Naya's story

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
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 may 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, motor disturbance, and intellectual impairment can proceed seizure onset and may be useful early indicators for molecular genetic testing.3,4
Many results are actionable. 


Gene panels increasingly help tailor your approach—more than 20 genes have been linked to disease management strategies. Identifying a seizure’s underlying etiology can enable more precise treatment.5

Precision medicine implications from genetic testing in childhood epilepsy 

  • Among nearly 10,000 patients with epilepsy, 14.9% to 24.4% received a definitive molecular diagnosis from lnvitae genetic testing.5

  • More than half of these diagnoses were in children younger than 5 years.

About the Behind the Seizure® program

Program eligibility

  • Any child under the age of 8 who has had an unprovoked seizure.

  • Specimen samples for this program are accepted from the US and Canada only. For Australian clinicians and patients, please visit Behind the Seizure® Australia for more information.

Invitae Epilepsy Panel

The Invitae Epilepsy Panel offers a broad and comprehensive analysis for genetic epilepsy, which includes 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.

How to order

1. Submit an order

To place your online order, click here and follow the on-screen prompts.

To place a paper-based order, download the US Paper order form or Canadian paper order form and include it in the specimen box. 

2. Collect a specimen

If a specimen collection kit was not ordered during the online ordering workflow, order a blood, buccal, or saliva collection kit here
Please view specimen and shipping requirements for important information, and be sure to include the completed requisition form in the kit with the specimen. 

3. Receive results

On average, results are available 10-21 days after Invitae receives the specimen. You will receive a notification email once the test results are ready.
Log in to view the status of your online order. 

Next steps and additional services

Broaden your search with re-requisition

If you don’t find answers with your initial order, 
Behind the Seizure® includes one re-requisition within 90 days to genes within the original clinical area.

Simply log into your account, navigate to the order, and click "Add re-requisition”

Family variant testing for familial insights

If a positive result is identified, testing for your patient’s family members is available.

Simply follow the ordering instructions, selecting only the gene(s) you are interested in testing for the family member. The partner code will automatically be added with the order.

Support every step of the way

Client Services

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

Clinical Support Services

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

Genetic Counseling Services (US)

Patients can schedule an appointment with Genetic Counseling Services after receiving their results:

Through the Patient Portal (preferred) - Log in to the Patient Portal and start the process under "Talk to a genetic counselor about your results."
By phone - Call Invitae Client Services at 1-800-436-3037 and ask about scheduling a genetic counseling appointment.
Online - Schedule an appointment at invitae.as.me/schedule and follow the on-screen prompts. 

References

  1. Pal DK, et al. Genetic evaluation and counseling for epilepsy. Nat Rev Neurol. 2010;6:445-453.

  2. Amadori E, Scala M, Cereda GS, et al. Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project. Ital J Pediatr. 2020;46(1):92. Published 2020 Jul 6. doi:10.1186/s13052-020-00860-1

  3. Specchio N, Pietrafusa N, Trivisano M. Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy. Ther Clin Risk Manag. 2020 Mar 30;16:213-222. doi: 10.2147/TCRM.S241048. PMID: 32280231; PMCID: PMC7127909.. 2016 Aug;12(8):465-76.

  4. Kaur S, Christodoulou J. MECP2 Disorders. 2001 Oct 3 [updated 2019 Sep 19]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. PMID: 20301670.. 2016 Aug;12(8):465-76.

  5. 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. Epilepsia Open. 2019;10:28.