Blueprint Genetics and BioMarin collaborate to offer a no-cost 416-gene Comprehensive Epilepsy Panel including mitochondrial genome sequencing and copy number variant (CNV) analysis for diagnostics of the genetic cause of paediatric epilepsy.
This program is for individuals in Europe and the Middle East and is currently only available for children whose first unprovoked seizure occurs between 2 to 4 years of age (24-48 months). Please see “Who Is Eligible for Testing” below.
Ordering is easy through Blueprint Genetics’ online ordering portal, Nucleus, and we also provide free sample collection kits with return shipment to our facility in Helsinki. Results are available in the Nucleus portal approximately 4 weeks after we receive the sample. Read more under “How to order”.
Why do genetic testing for early-onset epilepsy?
Genetic testing is an effective way to determine the underlying cause of early onset seizures. This program aims to improve early detection of neurodegenerative diseases that begin in early childhood and often initially present with seizures.
- Early utilization of molecular diagnostics can dramatically shorten the diagnostic pathway, enable early interventions, help determine prognosis, direct medical management and improve patient outcomes.
- Through this program, health care providers have easy and immediate access to one of the highest quality epilepsy genetic tests on the market for their patients.
- An accurate molecular diagnosis can also decrease the need for other medical tests and assist with family planning and risk stratification in the family.