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    • 44. 发明公开
    • Clinical method for the genetic screening of newborns using tandem mass spectrometry
    • 新生儿的遗传样品的临床方法使用串联质谱
    • EP2000800A2
    • 2008-12-10
    • EP08161251.7
    • 2000-07-07
    • PerkinElmer Genetics, Inc.
    • Chace, Donald H.
    • G01N33/50G01N33/68
    • G01N33/6848G01N33/5091G01N33/6812G01N33/96G01N2800/50G01N2800/60Y10T436/24
    • 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.
    • 使用电喷雾串联质谱(12)筛选的新生儿的高通量方法。 该方法提高了使用串联质谱法以提供在临床水平通过加强质量保证和质量控制(18),用于扫描分析和从新生儿的血液样品制备(10)协议准确和一致的结果的当前协议。 的特定的内部标准精确浓度被用于区分20种代谢物。 样品的光谱扫描并剧烈相比已知的光谱作为诊断解释系统(16)的一部分。 质量保证标志步骤比较峰,代谢物浓度和扫描强度的范围的阈值来确定的矿井样品是否被污染,药物丛生,可诊断或不可接受的。 所有的结果和质量保证标志组织收购后的数据处理,并且其中值被编译并存储日产量结果和趋势分析数据缩减(14)。