Behind the SeizureTM

Expedite diagnosis. Impact care.

Free epilepsy gene panel testing program

Invitae and BioMarin have partnered to offer free Invitae Epilepsy Panel testing for 3 year olds that meet the patient eligibility requirements to ensure patients benefit from genetic insights early in their care.

Genetic research is rapidly advancing our understanding of the underlying causes of epilepsy and clinical implications for disease management. In as little as 2 weeks, an epilepsy gene panel test can bring you and your patients closer to identifying the genetic cause behind the seizure. Determining a genetic basis of disease for children with unprovoked seizures has the potential to impact clinical management.

Eligibility

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Ordering instructions

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Program eligibility

3 year olds who had their first unprovoked seizure after the age of 2 years plus at least one of the following:

  • Language development delay at or prior to onset of first seizure
    • First two-word sentences later than 24 months (or never)
    • First full sentences later than 36 months (or never)
  • Motor difficulty
    • Ataxic gate and/or clumsiness/tripping and/or frequent falls
  • Abnormal electroencephalogram (EEG)
    • Positive photoparoxysmal response (PPR) with low frequency [1-2 Hz] intermittent photic stimulation (IPS)
  • Abnormal brain magnetic resonance imaging  (MRI)
    • Cerebellar atrophy and/or periventricular white matter hyperintensities

These patient eligibility requirements are the early signs and symptoms of CLN2 disease, a form of Batten disease. BioMarin has partnered with Invitae as part of their commitment to the CLN2 community. Click here to learn more about CLN2 disease.

Samples for this program are accepted from the US only.

Invitae Epilepsy Panel

The Invitae Epilepsy Panel offers a comprehensive analysis for inherited epilepsy, including up to 180+ genes that are associated with both syndromic and non-syndromic causes.

Benefits of genetic testing:

  • Tailor care to a patient’s specific needs
  • Help patients enroll in clinical trials
  • Shorten the time to diagnosis
  • Identify risk of disease for family members
  • Connect families with patient advocacy organizations
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Ordering made easy

Place your order Collect a sample Results

To qualify for the program, please be sure to follow all the steps below.

To place a paper-based order, download the paper order form and complete all sections including eligibility and patient consent.

To place an order online:

  1. Download and fill out the patient eligibility requirements form, which includes a required patient consent
  2. Sign up for an account
  3. Log in and start a new order
  4. Add the Invitae Epilepsy Panel to your order; add preliminary evidence genes if desired
  5. Fill in the required patient information
  6. Upload the patient eligibility form with the patient consent as an attachment in the reason for testing section
  7. Select institutional billing
  8. In the "purchase order #" field write "behind the seizure"
  9. Submit the order

Invitae is in the process of getting the full epilepsy panel New York State approved; please contact Client Services for more information.

To collect a sample:
  1. Order a sample collection kit
  2. Label the sample tube with the patient’s full name, date of birth, and sample collection date
  3. For additional information on specimen requirements, please click here.
To receive results:
  1. Once Invitae receives the sample, you will receive the results in 10-21 calendar days, 14 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 is a world leader in developing and commercializing innovative biopharmaceuticals for rare diseases driven by genetic causes. With more than 2,200 employees in 52 countries, BioMarin is recognized as an industry leader in getting therapies to market quickly and for our ongoing investment in research and development. BioMarin has 5 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.