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
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
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DOI：
10.1038/s41436-020-0790-9
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发表时间：
2020-04-20
影响因子：
8.8
通讯作者：
Gelb, Michael H.
中科院分区：
文献类型：
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作者：
Hong, Xinying;Sadilek, Martin;Gelb, Michael H.
目的开发一种用于新生儿筛查溶酶体贮积症和其他先天性缺陷的多重检测方法，以灵活、全面和经济实惠的方式跟上新生儿筛查组的扩展。方法采用超高效液相色谱-串联质谱（UPLC-MS/MS）作为检测平台。结果建立了一种高通量、18重的UPLC-MS/MS方法，样品周转时间为2.7 min。该测定被合并，使得仅需要四个干血斑穿孔，并且其显示出良好的精密度和再现性。结论我们报道了一种高度多重的UPLC-MS/MS方法，适用于15种溶酶体贮积病和3种先天性缺陷的新生儿筛查。它可以进一步扩展到包括症状前诊断可能有助于最佳治疗结果的其他条件。
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.