Clinical utility of a 377 gene custom next-generation sequencing epilepsy panel
JEN BEVILACQUA ANDREW HESSE BRIAN CORMIER JENNIFER DAVEY DEVANSHI PATEL KRITIKA SHANKAR HONEY V. REDDI
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Epilepsy is one of the most common neurological disorders with about 500 genes thought to be involved across the phenotypic spectrum (Busch et al. 2014; Ran et al. 2014), which includes monogenic, multigenic, epistatic and pleiotropic phenotype manifestations (Busch et al. 2014; Thomas et al. 2014), driving the need for a comprehensive diagnostic test. Next-generation sequencing (NGS) allows for the simultaneous investigation of a large number of genes, making it a very attractive option for a condition as diverse as epilepsy at a low cost compared to traditional Sanger sequencing (Lemke et al. 2012; Németh et al. 2013). Our 377 gene epilepsy NGS test was developed to include genes known to cause or have published association with epilepsy and seizure-related disorders. Given the scale of information that is generated, the efficacy of an NGS panel depends on a number of factors, including the genes present on the panel, prebioinformatic and postbioinformatic analysis protocols, as well as reporting criteria, prompting the current study, a retrospective analysis of 305 cases tested for the epilepsy panel.
JEN BEVILACQUA1 ANDREW HESSE1 2 BRIAN CORMIER1 JENNIFER DAVEY1 2 DEVANSHI PATEL1 KRITIKA SHANKAR1 HONEY V. REDDI1 2
Volume 102, 2023
Continuous Article Publishing mode
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