气相色谱-质谱联用技术尿液多种有机酸检测专家共识  

Consensus of Experts on Detection of Various Organic Acids in Urine by Gas Chromatography Mass Spectrometry

作　　者：杨江涛 曾伟宏 田国力 赵明 江剑辉 王治国 YANG Jiang-tao;ZENG WEI-hong;TIAN Guo-li;ZHAO Ming;JIANG Jian-hui;WANG Zhi-guo(Committee of Genetic Metabolic Diseases and Vitamin Metabolism,Chinese Maternal and Child Health Association;Experimental Technology and Management Group of Birth Defects Prevention and Control,Clinical Laboratory Committee,Chinese Hospital Association;Shenzhen Rare Disease Engineering Research Center of Metabolomics in Precision Medicine;Editorial Committee of Journal of Rare and Uncommon Diseases)

机构地区：[1]中国妇幼保健协会遗传代谢病和维生素代谢专业委员会 [2]中国医院协会临床检验专业委员会出生缺陷防控实验技术与管理学组 [3]深圳罕见病代谢组学精准医学工程研究中心 [4]《罕少疾病杂志》编辑委员会

出　　处：《罕少疾病杂志》2022年第8期1-5,共5页Journal of Rare and Uncommon Diseases

基　　金：国家重点研发计划(2016YFC1000307-15);深圳市科技创新委员会基础研究学科布局项目(JCYJ20180507183428877:20180253);深圳市工程研究中心(工程实验室)组建项目(F-2020-Z99-502615)。

摘　　要：随着气相色谱-质谱联用技术(GC-MS)检测尿液有机酸越来越广泛地用于辅助遗传代谢病诊断和高危筛查,开展GC-MS检测尿有机酸的实验室越来越多。国家卫生健康委临床检验中心于2017年启动了临床实验室GC-MS检测室间质评活动,但各实验室检测技术水平参差不齐,实验室检测技术和临床应用缺乏统一标准。因此,国家卫生健康委临床检验中心新生儿疾病筛查室间质评专家委员会组织专家,就GC-MS检测尿液中有机酸的实验室检测技术、相关试剂及内标设置、基于专用软件的检测指标及其参数体系、标准操作流程及质控管理等进行讨论,形成共识,报道如下。With the increasingly widespread use of gas chromatography-mass spectrometry(GC-MS)for the detection of urinary organic acids as an aid to the diagnosis of genetic metabolic diseases,more and more laboratories are carrying out GC-MS for the detection of urinary organic acids.The National Center for Clinical Laboratories launched an interstitial evaluation activity for GC-MS test rooms in China's clinical laboratories in 2017,However,the level of testing technology varies among laboratories,and there is a lack of uniform standards for laboratory testing technology and clinical application.In this regard,the inter-laboratory quality assessment committee of the National Center for Clinical Laboratories for Neonatal Disease Screening organized experts to discuss the laboratory testing techniques for GC-MS detection of organic acids in urine,the relevant reagents and internal standard settings,the detection index and its parameter system based on special software,the standard operating procedures and quality control management,and formed a consensus,which is reported below.

关 键 词：气相色谱-质谱联用技术 有机酸 尿液 有机酸尿症 遗传代谢病 

分 类 号：R589[医药卫生—内分泌]