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Clinical method for the genetic screening of newborns using tandem mass spectrometry

机译:串联质谱法筛查新生儿的临床方法

摘要

A high-throughput method for screening newborns using electrospray tandem mass spectrometry (12). The method improves the current protocols using tandem mass spectrometry to provide accurate and consistent results at the clinical level through enhanced quality assurance and quality control (18) protocols for scan profiling and sample preparation (10) of blood from newborns. Precise concentrations of specific internal standards are used to distinguish twenty metabolites. Spectra of the samples are scanned and vigorously compared to known spectra as part of a diagnostic interpretation system (16). Quality assurance flags step compare peaks, metabolite concentration and scan intensities to a range of thresholds to determine whether or not the sample is contaminated, drug-ridden, diagnosable or unacceptable. All results and quality assurance flags are organized for post-acquisition data processing and data reduction (14) where values are compiled and stored for daily output results and trend analysis.
机译:使用电喷雾串联质谱法筛查新生儿的高通量方法(12)。该方法通过使用串联质谱技术改进了当前方案,以通过增强质量保证和质量控制(18)协议对新生儿血液进行扫描分析和样品制备(10)来在临床水平上提供准确一致的结果。特定内标物的精确浓度用于区分二十种代谢物。扫描样品的光谱,并将其与已知光谱进行大力比较,作为诊断解释系统的一部分(16)。质量保证标志可将峰,代谢物浓度和扫描强度与一系列阈值进行比较,以确定样品是否被污染,药物丰富,可诊断或不可接受。所有结果和质量保证标志都经过组织,以用于采集后数据处理和数据缩减(14),在其中汇编和存储值以用于每日输出结果和趋势分析。

著录项

  • 公开/公告号EP2000800A3

    专利类型

  • 公开/公告日2008-12-17

    原文格式PDF

  • 申请/专利权人 PERKINELMER GENETICS INC.;

    申请/专利号EP20080161251

  • 发明设计人 CHACE DONALD H.;

    申请日2000-07-07

  • 分类号G01N33/50;G01N33/68;

  • 国家 EP

  • 入库时间 2022-08-21 19:19:43

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