Paediatric Epilepsy? Look Beyond…

Blueprint Genetics and BioMarin collaborate to offer a no-cost 194 gene Comprehensive Epilepsy Panel for diagnosis of the genetic cause of paediatric epilepsy in Europe and Middle East countries.

Seizures occurring in childhood may be caused by an underlying genetic disorder and applying early and accurate genetic diagnostics can shorten the diagnostic odyssey, improve the management of these patients and contribute to the understanding of paediatric onset epileptic disorders.

With this initiative, the aim is to promote early genetic testing for timely diagnosis of genetic causes of epilepsy and also of rare genetic neurodegenerative diseases presenting with epilepsy.

The initiative is part of BioMarin’s service support for patients and families with rare genetic diseases such as the neuronal ceroid lipofuscinosis type 2 (CLN2) disease, a rare neurodegenerative disease presenting with epilepsy in the paediatric age.

Eligibility criteria

In order to be eligible for the Paediatric Epilepsy Look Beyond program patients must:

  • Be aged 2-4 years (24-60 months)
  • Have experienced the onset of their first unprovoked seizure after age of 2
  • Have consent from their legal guardian(s) for this program

Beyond Paediatric Epilepsy Panel

The Comprehensive Epilepsy Panel used in this program covers 194 genes associated with epilepsy disorders and metabolic diseases presenting with epilepsy. The panel includes coverage for all protein coding exons, exon-intron boundaries (+/-15bp) and offers coverage for certain established deep intronic variants. The panel also offers high resolution copy number variant detection for genes on the panel. The panel has undergone comprehensive analytic validation to demonstrate quality and performance with various types of mutations.

Quality and data protection

In this program ISO15189 and CAP accredited Blueprint Genetics offers genetic diagnostics for all eligible patients.

The medical professional must inform patients or family member regarding the program and obtained consent to undergo genetic testing. Blueprint Genetics will share with BioMarin anonymized data from this initiative. This data includes year of birth, variants found in the analysis and name of the ordering hospital. All data will be shared in accordance with the laws of the European Union.. The anonymized variants found in this initiative will be shared in public database ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) to help other patients around the world. These variants may also be listed in a scientific peer reviewed publication on utilizing comprehensive genetic testing in childhood epilepsy.