Abstract:Nowadays various types of genetic tests including single gene testing, Panel testing, whole-exome sequencing and wholegenome sequencing, have been widely used in the diagnosis of neurogenetic diseases. With the advances in genetic testing, physicians are able to reach a rapid and precise diagnosis of diseases with vast genetic heterogeneity and complex phenotypes. This overview of genetic testing strategies aims to help physicians to select the test that is most appropriate for their practice setting.
