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Updated: May 11, 2026
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Microfluidic Platform with Multiplexed Electronic Detection for Spatial Tracking of Particles
Published on: March 13, 2017
Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic
Ramakrishna S Sista1, Tong Wang, Ning Wu
1Advanced Liquid Logic, Inc., P.O. Box 14025, Research Triangle Park, NC 27709, USA.
Summary
New digital microfluidic assays enable rapid screening for five lysosomal storage diseases (LSDs) in newborns. This technology offers potential for high-throughput newborn screening of Pompe, Fabry, Hunter, Gaucher, and Hurler diseases.
Area of Science:
- Biochemistry
- Genetics
- Medical Diagnostics
Background:
- Advancements in therapies for lysosomal storage diseases (LSDs) necessitate effective newborn screening methods.
- Digital microfluidic platforms offer potential for multiplexed diagnostic assays.
Purpose of the Study:
- To validate the performance of a digital microfluidic platform for multiplex enzymatic assays of five LSDs.
- To assess the platform's suitability for newborn screening.
Main Methods:
- Development of a disposable digital microfluidic cartridge for 5-plex fluorometric enzymatic assays.
- Analysis of up to 44 dried blood spot (DBS) samples per cartridge.
- Precision and linearity assessment using quality control samples; clinical performance evaluation with 600 samples.
Main Results:
- Assays demonstrated good precision (CV 2-21%) and linearity (correlation coefficients ≥0.98).
- The multiplex assay successfully discriminated between normal and affected individuals for all five LSDs.
- Sample preparation to enzymatic activity was completed in under 3 hours.
Conclusions:
- Digital microfluidic technology shows promise for rapid, high-throughput newborn screening of five LSDs.
- The platform is suitable for a newborn screening laboratory setting.
- Enables efficient detection of Pompe, Fabry, Hunter, Gaucher, and Hurler diseases.
Keywords:
4-MU4-MU-α-Gal4-MU-α-IDS4-MU-α-IDU4-MU-α-gluc4-MU-β-Gluc4-methyl umbelliferone4-methylumbelliferyl α-d-galactopyranoside4-methylumbelliferyl α-d-glucopyranoside4-methylumbelliferyl α-l-iduronate-2-sulfate4-methylumbelliferyl α-l-iduronide4-methylumbelliferyl β-d-glucopyranosideALLCDCCLSICenters for Disease Control and PreventionClinical and Laboratory Standards InstituteDBSDMSODigital microfluidicsDried blood spotGAAGBAGLAGalNacHigh throughputIDSIDULSDsLysosomal storage diseaseMultiplex enzymatic assayN-acetyl-d-galactosamineNBSNewborn screeningQCBPQCHQCLQCMRFUacid α-galactosidaseacid α-glucosidaseacid α-l-iduronate-2-sulfataseacid α-l-iduronidaseacid β-d-glucosidaseadvanced liquid logic, Inc.d-Sacd-saccharic acid 1,4 lactonedimethyl sulfoxidedried blood spotlysosomal storage diseasesmethyl-β-cyclodextrinnewborn screeningquality control base pool, 0% cord blood+100% leukoreduced adult blood adjusted to 50.5% hematocrit on filter paperquality control high, cord blood adjusted to 50.5% hematocrit on filter paperquality control low, 5% cord blood+95% leukoreduced adult blood adjusted to 50.5% hematocrit on filter paperquality control medium, 50% cord blood+50% leukoreduced adult blood adjusted to 50.5% hematocrit on filter paperrelative fluorescence unitsβ-MBCD
