胚系突变高通量测序质量控制流程和能力验证方法  

Quality control and proficiency testing in next-generation sequencing of inherited genetic mutations

作　　者：王妍格 杨季云 周玉 蒋黎 WANG Yange;YANG Jiyun;ZHOU Yu;JIANG Li(Department of Clinical Laboratory,Sichuan Provincial People's Hospital,University of Electronic Science and Technology of China,Sichuan Academy of Medical Sciences,Chengdu 610072,Sichuan,China;Center of Medical Genetics,Sichuan Provincial People's Hospital,University of Electronic Science and Technology of China,Sichuan Academy of Medical Sciences,Chengdu 610072,Sichuan,China)

机构地区：[1]四川省医学科学院四川省人民医院(电子科技大学附属医院)临床医学检验中心,四川成都610072 [2]四川省医学科学院四川省人民医院(电子科技大学附属医院)医学遗传中心,四川成都610072

出　　处：《检验医学》2025年第2期114-120,共7页Laboratory Medicine

摘　　要：二代测序(NGS)技术对胚系突变的精准检测为疾病诊断提供了强有力的技术支持。然而,在实际操作中,NGS检测结果的准确性和可靠性易受样本质量、实验流程、仪器性能和数据分析等多种因素影响。因此,实验室需对NGS全流程进行质量控制,确保NGS检测结果的可靠性和临床可用性。文章重点探讨NGS检测流程中质量控制的关键指标和能力验证(PT)方法,为NGS实验室规范化管理和检测结果可靠性的提升提供参考。Next-generation sequencing(NGS)provides technical support for the precise detection of genetic mutations associated with hereditary diseases and their diagnosis.However,the accuracy and validity of NGS are susceptible to various factors,including sample quality,experimental procedures,instrument performance and datum analysis processes.Therefore,clinical laboratories must implement comprehensive quality control measures to guarantee the validity of the detection results.This review focuses on the quality control strategies and proficiency testing(PT)methods in the NGS workflow,providing a reference for standardized laboratory management of NGS.

关 键 词：二代测序 质量控制 能力验证 

分 类 号：R446.1[医药卫生—诊断学]