Clinical utility of a 377 gene custom next-generation sequencing epilepsy panel

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 ....

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Bibliographic Details
Published in:Journal of genetics 2017-09, Vol.96 (4), p.681-685
Main Authors: Bevilacqua, Jen, Hesse, Andrew, Cormier, Brian, Davey, Jennifer, Patel, Devanshi, Shankar, Kritika, Reddi, Honey V.
Format: Article
Language:English
Subjects:
Animal Genetics and Genomics
Biomedical and Life Sciences
Clinical trials
Comparative analysis
Diagnosis
DNA sequencing
Epilepsy
Epilepsy - genetics
Epistasis
Evolutionary Biology
Gene Expression Profiling - methods
Genes
Genetic Association Studies
Genetic Predisposition to Disease
Genetic research
Genetic Testing - methods
High-Throughput Nucleotide Sequencing
Humans
Life Sciences
Microbial Genetics and Genomics
Neurological diseases
Nucleotide sequencing
Plant Genetics and Genomics
Reproducibility of Results
Research Note
Seizures
Seizures (Medicine)
Sensitivity and Specificity
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Summary: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.
ISSN:0022-1333
0973-7731
DOI:10.1007/s12041-017-0791-x