Successful Adaptation of Targeted Gene Panel Next-Generation Sequencing in Regional Hospital in Hong Kong: Genomic Diagnosis of SCN2A-Related Seizure Disorder

Abstract

Pathogenic and likely pathogenic variants were subsequently confirmed by Sanger sequencing in the proband and in the mother. Since the parents were divorced, no sample could be collected from the father. [3] Pathogenic variants in SCN2A have been associated with a phenotypic spectrum that includes benign neonatal/infantile seizures, Ohtahara syndrome, epilepsy of infancy with migrating focal seizures, West syndrome, Lennox-Gastaut syndrome, myoclonic-atonic epilepsy, electrical status epilepticus during sleep, and intellectual disability and/or autism without epilepsy. The advantages of utilizing commercial software include user-friendly interface and higher acceptability by technical staff and pathologists, as well as a large number of users with shared experiences worldwide, while the analysis could be performed on an average 64-bit personal computer costing less than US 1000 dollars (or RMB 7000 Yuan) without the need of a dedicated bioinformatician. [...]we have successfully implemented targeted panel genomic testing by next-generation sequencing in clinical diagnostic service in a regional hospital in Hong Kong (China) with the use of commercially available clinical exome capture kit and bioinformatics software.