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Correlation between the size of customized epilepsy gene panels and diagnostic yield

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/

DOI: 10.1055/s-0040-1712488

 

 

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