Blueprint Genetics and BioMarin collaborate to offer a no-cost 283+ 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.
- Be >24 months and ≤48 months old
- Have experienced the onset of their first unprovoked seizure after age of 24 months
- Have one of the following signs/symptoms: history language delay or regression, motor impairments or regression (ataxia, abnormal gait, etc), EEG abnormality, MRI abnormality
- Have consent from their legal guardian(s) for this program
- Patient lives in Europe or the Middle East*
- Have a copy of original medical data report from the physician or hospital assessing clinical condition of the patients**
Beyond Paediatric Epilepsy Panel
The Comprehensive Epilepsy Panel used in this program covers 283+ genes associated with epilepsy disorders and metabolic diseases presenting with epilepsy. The panel includes coverage for all protein coding exons, exon-intron boundaries (+/-20bp) 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.