シクロデキストリン論文データベース検索システム
| 論文名 | Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform. |
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| 著者 | Ramakrishna S Sista Tong Wang Ning Wu Carrie Graham Allen Eckhardt Theodore Winger Vijay Srinivasan Deeksha Bali David S Millington Vamsee K Pamula |
| キーワード | |
| 出版年月 | 1970年1月 |
| 発表先 | Clin Chim Acta. 2013 Sep 23;424:12-8. |
| WEBサイト | |
| 論文概要（和文） | デジタルマイクロ流体プラットフォームを使用したポンペ、ファブリー、ハンター、ゴーシェ、およびハーラー病の多重新生児スクリーニング。 |
| 論文概要（英文） | 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 3h. |