Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform

被引：75

作者：

Sista, Ramakrishna S. ^{[1
]}

Wang, Tong ^{[1
]}

Wu, Ning ^{[1
]}

Graham, Carrie ^{[1
]}

Eckhardt, Allen ^{[1
]}

Winger, Theodore ^{[1
]}

Srinivasan, Vijay ^{[1
]}

Bali, Deeksha ^{[2
]}

Millington, David S. ^{[2
]}

Pamula, Vamsee K. ^{[1
]}

机构：

[1] Adv Liquid Log Inc, Res Triangle Pk, NC 27709 USA

[2] Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27713 USA

来源：

CLINICA CHIMICA ACTA | 2013年 / 424卷

基金：

美国国家卫生研究院;

关键词：

Newborn screening; Lysosomal storage disease; Digital microfluidics; Dried blood spot; High throughput; Multiplex enzymatic assay; LYSOSOMAL STORAGE DISORDERS; TANDEM MASS-SPECTROMETRY; DRIED BLOOD SPOTS; ASSAY;

D O I：

10.1016/j.cca.2013.05.001

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

Purpose: New therapies for lysosomal storage diseases (LSDs) have generated interest in screening newborns for these conditions. We present performance validation data on a digital microfluidic platform that performs multiplex enzymatic assays for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases. Methods: We developed an investigational disposable digital microfluidic cartridge that uses a single dried blood spot (DBS) punch for performing a 5-plex fluorometric enzymatic assay on up to 44 DBS samples. Precision and linearity of the assays were determined by analyzing quality control DBS samples; clinical performance was determined by analyzing 600 presumed normal and known affected samples (12 for Pompe, 7 for Fabry and 10 each for Hunter, Gaucher and Hurler). Results: Overall coefficient of variation (CV) values between cartridges, days, instruments, and operators ranged from 2 to 21%; linearity correlation coefficients were >= 0.98 for all assays. The multiplex enzymatic assay performed from a single DBS punch was able to discriminate presumed normal from known affected samples for 5 LSDs. Conclusions: Digital microfluidic technology shows potential for rapid, high-throughput screening for 5 LSDs in a newborn screening laboratory environment. Sample preparation to enzymatic activity on each cartridge is less than 3 h. (c) 2013 Elsevier B.V. All rights reserved.

引用

页码：12 / 18

页数：7

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