Correlation between the size of customized epilepsy gene panels and diagnostic yield
January 22, 2021
Amplexa Genetics has in collaboration with three other genetic laboratories; Center of Human Genetics and Laboratory Diagnostics, CEGAT and Medical Genetics Center, published the paper ”Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters”. This study has compared the diagnostic yield in small (<25 kb) and large (>25 kb) customized epilepsy panels. Next Generation Sequencing (NGS) is a powerful tool to identify monogenic epilepsy syndromes. This retrospective cohort study investigated data of 190 young patients with a diagnosis of an epilepsy of unknown etiology who underwent NGS using customized gene panels.
The results indicated that customized epilepsy panels of >25 kb compared with smaller panels show a significant higher diagnostic yield in patients with epilepsy especially in non-developmental and epileptic encephalopathy (non-DEE) patients.
Pubmed link: https://pubmed.ncbi.nlm.nih.gov/33086385/