[PS4-1D-2] Efficient strategy for the molecular diagnosis of early-onset epilepsy using targeted panel sequencing
Over the past decade, next-generation sequencing (NGS) has been successfully deployed in the clinics for early-onset epilepsy. We designed a targeted panel consisting 172 genes associated with early-onset epilepsy and have evaluated this in clinical field. In addition to detecting small nucleotide variants, we performed intensive bioinformatics analyses to detect copy number variations either at gene or chromosome level. Furthermore, close communication among laboratory personnel and clinicians followed by making consensus in periodic meeting helped us filter variants of unknown significance and identify pathogenic variants associated with the patient’s disease. Through this team approach, about 10% of increment of diagnostic yield above conventional variant analysis was achieved, reaching up to 40% of final diagnostic yield. Quality control is also an important issue in clinical NGS testing, and with such efforts, NGS testing will provide great value in clinics for early-onset epilepsy.