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Research Letter |

Diagnostic Yield of Clinical Next-Generation Sequencing Panels for Epilepsy

Jason Wang, MD1; Garrett Gotway, MD, PhD2; Juan M. Pascual, MD, PhD3; Jason Y. Park, MD, PhD1
[+] Author Affiliations
1Department of Pathology, Children’s Medical Center, University of Texas Southwestern Medical Center, Dallas
2Division of Genetics and Metabolism, Department of Pediatrics, Children’s Medical Center, University of Texas Southwestern Medical Center, Dallas
3Rare Brain Disorders Program, Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas
JAMA Neurol. 2014;71(5):650-651. doi:10.1001/jamaneurol.2014.405.
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During the past 2 years, next-generation DNA sequencing (NGS) has become a widespread diagnostic tool in neurology. Several studies have addressed the diagnostic yield and cost of NGS relative to other types of DNA testing. G-banded karyotyping identifies chromosomal aberrations and has a 3% diagnostic yield for unexplained developmental disabilities or other congenital anomalies.1 In comparison, chromosomal microarrays detect gene copy number variations and have a yield of 15% to 20% for the same disorder categories.1 Next-generation DNA sequencing, in the format of whole-exome sequencing (WES), can be diagnostic in 25% of neurogenetic cases.2 Similarly, whole-genome sequencing (WGS) with NGS has a reported diagnostic yield of 27% in children and adults with a broad variety of diseases.3 In contrast to WES and WGS, targeted NGS panels focus on subsets (dozens to hundreds) of genes associated with specific phenotypes. For example, targeted NGS directed at a single disease category, such as congenital glycosylation disorders, has a reported diagnostic yield of 14.8%.4 Given the prevalence of pediatric epilepsy, we set out to critically assess the diagnostic yield of an NGS panel for epilepsy in a pediatric tertiary care hospital.

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