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

被引：21
|
作者：
Hong, Xinying [1 ]
Sadilek, Martin [1 ]
Gelb, Michael H. [1 ,2 ]
机构：
[1] Univ Washington, Dept Chem, Seattle, WA 98195 USA
[2] Univ Washington, Dept Biochem, Seattle, WA 98195 USA
来源：
GENETICS IN MEDICINE | 2020年 / 22卷 / 07期
基金：
美国国家卫生研究院;
关键词：
newborn screening; UPLC-MS; MS; multiplex; enzymatic assay; biomarker; METACHROMATIC LEUKODYSTROPHY; QUANTITATIVE-ANALYSIS; MASS-SPECTROMETRY; RAPID DIAGNOSIS; FABRY DISEASE; PROTEIN; GLOBOTRIAOSYLSPHINGOSINE; QUANTIFICATION; ACYLCARNITINES; DEFICIENCY;
D O I：
10.1038/s41436-020-0790-9
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
引用
收藏
页码：1262 / 1268
页数：7
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