一种用于干血斑中分析物的高度多重生化分析检测方法：在新生儿筛查以及溶酶体贮积症和其他先天性代谢缺陷疾病诊断中的应用。
A highly multiplexed biochemical assay for analytes in dried blood spots: application to newborn screening and diagnosis of lysosomal storage disorders and other inborn errors of metabolism.
机构信息
Department of Chemistry, University of Washington, Seattle, WA, USA.
Deparment of Biochemistry, University of Washington, Seattle, WA, USA.
出版信息
Genet Med. 2020 Jul;22(7):1262-1268. doi: 10.1038/s41436-020-0790-9. Epub 2020 Apr 20.
PURPOSE
To develop a multiplexed assay for the newborn screening of lysosomal storage disorders and additional inborn errors in a flexible, comprehensive, and affordable manner to keep up with the expansion of the newborn screening panel.
METHODS
Ultraperformance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) was chosen as the detection platform for its superiority compared to traditional flow-injection MS/MS.
RESULTS
A high-throughput, 18-plex UPLC-MS/MS assay was developed for screening purposes with a sample turnaround time of 2.7 minutes. The assay was consolidated such that only four dried blood spot punches were required, and it displayed good precision and reproducibility.
CONCLUSION
We report a highly multiplexed UPLC-MS/MS assay that is appropriate for the newborn screening of 15 lysosomal storage diseases and 3 additional inborn errors. It can be further expanded to include additional conditions for which presymptomatic diagnosis may facilitate optimum treatment outcome.
目的
以灵活、全面和经济的方式开发一种用于新生儿筛查溶酶体贮积症和其他先天性代谢错误的多重分析方法，以跟上新生儿筛查范围的扩大。
方法
超高效液相色谱-串联质谱（UPLC-MS/MS）被选为检测平台，因为与传统的流动注射 MS/MS 相比，它具有优越性。
结果
开发了一种高通量、18 重 UPLC-MS/MS 分析方法用于筛查目的，样品周转时间为 2.7 分钟。该分析方法进行了整合，仅需四个干血斑打孔即可完成，且显示出良好的精密度和重现性。
结论
我们报告了一种高度多重化的 UPLC-MS/MS 分析方法，适用于 15 种溶酶体贮积症和 3 种其他先天性代谢错误的新生儿筛查。它可以进一步扩展，以包括其他可能促进最佳治疗效果的有症状前诊断的情况。
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