快速高通量测序技术快速诊断新生儿遗传病的临床实践

Clinical practice of rapid high-throughput sequencing for rapid diagnosis of neonatal genetic diseases

高通量测序技术目前已广泛用于诊断新生儿遗传相关罕见病。快速高通量测序技术与常规二代测序技术相比,检测流程更完善、检测时间更短,对新生儿采用快速高通量测序能及时调整临床治疗决策。本文系统分析了近年来快速高通量测序技术在新生儿遗传病诊断中应用情况,为进一步在临床推广提供参考。

High-throughput sequencing technology has been widely used to diagnose neonatal genetic diseases.Compared with conventional next-generation sequencing technology,the sequencing process of rapid high-throughput sequencing is more complete and with shorter sequencing time.The rapid high-throughput sequencing can be used for timely adjustment of clinical management.This review systematically analyzes the application of rapid high-throughput sequencing technology in the diagnosis of neonatal genetic diseases,and provides a reference for its routine clinical application.