Importance of size of gene panels in diagnostics of children with epilepsy

Amplexa Genetics has in collaboration with three German laboratories; The Center for Human Genetics and Laboratory Diagnostics, CEGAT and Medical Genetics Center, has approved and published the article "Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters".

In this article, the relationship between the size of gene panels and the diagnostic yield, for children with epilepsy, is investigated. The two sizes of gene panels used in this study are <25 kb and> 25 kb, respectively. Next Generation Sequencing (NGS) can be used to identify monogenetic epilepsy syndromes.

This retrospective cohort study, via NGS, collected data from 190 patients diagnosed with epilepsy of unknown etiology.The study shows that larger gene panels, compared to smaller panels, show a markedly higher diagnostic yield, especially in non-developmental and epileptic encephalopathy (non-DEE) patients.

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