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Eligibility for a program that provides free genetic testing for epilepsy in young children has been expanded. The Behind the Seizure program, which had been available for patients age 2 to 4 years with a history of 1 or more unprovoked seizures, is now offered for children from birth to age 5 years.
Over the past 2 years, hundreds of children have received testing through this program, and research has shown that participants were diagnosed 1 to 2 years sooner than historic averages for the diagnoses identified.
The 4 corporate partners in the program (Invitae Corporation, Stoke Therapeutics, Xenon Pharmaceuticals, and BioMarin Pharmaceutical sponsor the cost of testing a gene panel (Invitae Epilepsy Panel; Invitae Corporation, San Francisco, CA) of over 180 genes associated with both syndromic and non-syndromic causes of epilepsy, including neurodegenerative conditions.
On average, test results are available in 14 days. "Through this program we can secure comprehensive genetic testing for a child who has had an unprovoked seizure at no cost to the patient,” said Raman Sankar, MD, professor and chief of pediatric neurology at UCLA Mattel Children's Hospital in Los Angeles. “That testing helps us get to a diagnosis faster so we can focus on providing the most accurate and timely treatment for our patients. When dealing with such young patients, this type of program can be very important, shortening the time to diagnosis, particularly for neurodegenerative conditions such as CLN2 disease."
Rashmi B. Halker Singh, MD; Amaal J. Starling, MD; and Juliana VanderPluym, MD
Regina Krel, MD; and Paul G. Mathew, MD, DNBPAS, FAAN, FAHS
Mary Motwani, PhD; and Deena Kuruvilla, MD