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Behind the SeizureTM

Test early to expedite care

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No-cost epilepsy gene panel testing program

Invitae and BioMarin have partnered to offer no-cost Invitae Epilepsy Panel testing for children 2 to 4 years of age, who experienced their first unprovoked seizure after the age of 2 years.

An epilepsy gene panel test can bring you and your patients closer to identifying the genetic cause behind the seizure, thereby shortening the diagnostic odyssey and potentially impacting clinical management.

  • More than 50% of epilepsies have some genetic basis, and early testing may be the most direct, cost-effective, and accurate diagnostic tool.1
  • Not all seizures are benign, and genetic testing can help to rule out or confirm a suspected diagnosis or uncover a rare or fatal disease. Learn more about CLN2 disease and why early diagnosis is essential for patients with this disorder.
  • Many genes are actionable, and early diagnosis is critical as it can inform treatment decisions.

Reference: 1. Pal DK, Pong AW, Chung WK. Genetic evaluation and counseling for epilepsy. Nat Rev Neurol. 2010;6:445-453.

Eligibility

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Panel

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Ordering instructions

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Program eligibility

  • Child age at test order: ≥24 months to <60 months
  • Unprovoked seizure onset at ≥24 months

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 inherited 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 (14 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. 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, 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 6 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.