性恋新陈代谢的先天错误面板

Bruker IVDR用于Newbornscreening（B.I.Quant-ur Ne）

NMR的尿液选择性筛查结合了对代谢物的有针对性分析，包括代谢的先天误差和其他疾病标志物以及针对健康新生儿模型的非靶向分类。非目标筛选可以检测所有NMR可见的偏差与已知或未知的正常参考。图1说明了识别与正态性的偏差。所有包含的内部联系模型的NMR光谱均组合在所谓的分位数图中，该图显示为NMR光谱上的颜色带。来自新样品的频谱可以被叠加并测试与模型的一致性，即所有共振都符合模型定义的信封。该测试可以自动以单个或多元的方式进行。样品谱代表了Canavan疾病病例。在整体NMR光谱的扩展中，N-乙酰天冬波酸保健的信号清晰可见。作为B.I. Quant-urpanel的一部分，可以自动鉴定并量化N-乙酰大规模酸。但是，统计数据还将揭示出具有相同确定性的先前看不见的偏差。

Influence of Metadata

Beside the use of normal models, it is also possible to investigate the influence of metadata on the NMR spectra. The influence of the day of life after birth on the NMR spectra has been especially investigated and the evolution of Metabolic Profile during the first days of lifecan be shown (figure 2). When new samples are projected onto this trajectory, it is possibleto determine whether the babies' development follows the model pattern. It is clear that sample B corresponds to a baby who has developed further than usual. Sample A is interesting because it comes from day 5 but falls into the group of day 1 and 2. This could indicate a delay in development and therefore advise further testing, as the delay could be the first sign of an inborn error not yet manifested by the usual biomarkers.

Support for Interpretation in Context of IEM
Bruker IVDr Inborn Error of Metabolism Panel ( B.I.IEM Panel)

The Bruker IVDr Inborn Errors of Metabolism Panel (B.I.IEM Panel), developed for research use only (RUO), automatically produces valuable support for the diagnostic interpretation of B.I.QUANT-UR results by using the database Metagene. Healthcare professionals can use the information in the context of diagnosis and management of inborn errors of metabolismin newborns, children and adults. The NMR metabolic findings of B.I.QUANT-UR can becompared against a dedicated Bruker version of Metagene's existing database which contains almost 1000 diseases and differential diagnoses,providing clinicians with a wealth of data tosupport diagnoses. Interactively, it is possible to add clinical relevant information which could help for the ranking of potential diagnoses. This panel approach not only supports diagnostics of inborn errors of metabolism but also research in the Pediatrics field.