中国神经再生研究(英文版) ›› 2020, Vol. 15 ›› Issue (2): 265-266.doi: 10.4103/1673-5374.265554

• 观点:神经损伤修复保护与再生 • 上一篇    下一篇

利用下一代测序的神经病学基因测试:现状

  

  • 出版日期:2020-02-15 发布日期:2020-05-25

Genetic testing in neurology exploiting next generation sequencing: state of art.

Chiara Di Resta1,2, Maurizio Ferrari1,2,3   

  1. 1Vita-Salute San Raffaele University, Milan, Italy 2Unit of Genomics for Human Disease Diagnosis, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy  3Clinical Molecular Biology Laboratory, IRCCS San Raffaele Hospital, Milan, Italy 
  • Online:2020-02-15 Published:2020-05-25
  • Contact: Chiara Di Resta, diresta.chiara@hsr.it; Maurizio Ferrari, ferrari.maurizio@hsr.it.

摘要: orcid: 0000-0003-2880-6631 (Chiara Di Resta)

Abstract: Next generations sequencing (NGS) is definitely one of the most revolutionary technology of the last years in genetic and medical field (Kricka and Di Resta, 2013). It brought important changes in genetic testing of inherited human disorders, in particular in neurological Mendelian forms, such as inherited neuropathies, ataxias or monogenic form of epilepsy, where “diagnostic odyssey” is quite common. This term refers to the single-gene test approach where patients are evaluated by multiple providers, sometimes for years, without a genetic diagnosis (Di Resta et al., 2018). Indeed, in the Sanger sequencing era, neurologists were quite frustrated by the low diagnostic yield obtained by testing selected candidate genes, also due to the difficulties in differentiating genetic forms from acquired one, having the same clinical manifestations. In this context, clinicians had to pick a candidate gene to analyze and the gene-by-gene sequencing approach was not economical or efficient (Di Resta et al., 2018).