神经系统遗传病的基因检测策略

Strategies of molecular genetic testing for neurogenetic diseases

摘要:

近年来，各种基因检测技术包括单基因测序、基因Panel、全外显子组测序和全基因组测序等被广泛应用于神经系统遗传病的诊断中。基因检测技术的快速发展使临床医生能够探索表型更为复杂、遗传异质性更大的疾病，帮助他们对疾病作出快速且精准的诊断。本文旨在帮助临床医生在种类繁多的基因检测技术中选择合适的方法辅助诊断神经系统遗传病。

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.