Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients

ConclusionIn our study, we observed an improved performance of multi-gene panel testing, with an overall diagnostic yield of 40%. Furthermore, we show that NGS (next-generation sequencing)-based testing is comprehensive and can detect all types of variants including structural variants. It can be considered as a single-platform genetic test for neurological disorders that can provide a swift and definitive diagnosis in a cost-effective manner.
Source: Journal of Neurology - Category: Neurology Source Type: research