Characterization of Dried Blood Spot Quality Control Materials for Lysosomal Enzyme Activity Assays Using Digital Microfluidic Fluorometry to Detect Lysosomal Storage Disorders in Newborns
Abstract
:1. Introduction
2. Materials and Methods
2.1. DBS QC
2.2. Study Protocol and Data Analysis
3. Results
3.1. Quantitative Enzyme Activities
3.2. Categorical Results
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
Disclaimers
Abbreviations
References
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Enzyme Activity Level in µmol/h/L Blood | |||||
---|---|---|---|---|---|
QC Level | QC Lot | GAA (1708/1808) | GLA (1708/1808) | GBA (1708/1808) | IDUA (1708/1808) |
High | Mean | 28.3/28.2 | 46.1/64.3 | 10.4/11.7 | 28.3/30.5 |
SD | 2.06/1.69 | 3.03/3.50 | 0.92/1.21 | 2.75/2.85 | |
Mid | Mean | 16.3/15.4 | 25.1/32.4 | 6.60/6.61 | 14.8/15.8 |
SD | 1.96/1.68 | 1.92/2.06 | 0.63/0.53 | 1.25/1.16 | |
Low | Mean | 2.52/2.43 | 5.22/5.59 | 2.28/2.36 | 3.30/4.23 |
SD | 0.22/0.33 | 0.49/0.61 | 0.20/0.41 | 0.63/1.03 | |
Base Pool | Mean | 0.97/1.44 | 3.74/3.66 | 2.05/2.17 | 1.52/2.44 |
SD | 0.24/0.70 | 0.44/0.39 | 0.26/0.20 | 0.73/0.67 |
Summary Categorical Results on 1708 and 1808 QC Materials from CDC Analyses | |||||
---|---|---|---|---|---|
High-Risk (Referral)/Borderline (Repeat)/Within Normal Range | |||||
QC Level | Lot | GAA | GLA | GBA | IDUA |
Base Pool | 1708 | 20/0/0 | 20/0/0 | 20/0/0 | 20/0/0 |
1808 | 20/0/0 | 20/0/0 | 20/0/0 | 20/0/0 | |
QC-Low | 1708 | 20/0/0 | 18/2/0 | 20/0/0 | 16/4/0 |
1808 | 20/0/0 | 15/5/0 | 20/0/0 | 8/11/1 | |
QC-Mid | 1708 | 0/0/20 | 0/0/20 | 0/15/5 | 0/0/20 |
1808 | 0/0/20 | 0/0/20 | 0/16/4 | 0/0/20 | |
QC-High | 1708 | 0/0/20 | 0/0/20 | 0/0/20 | 0/0/20 |
1808 | 0/0/20 | 0/0/20 | 0/0/20 | 0/0/20 |
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© 2025 by the authors. Published by MDPI on behalf of the International Society for Neonatal Screening. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
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Dantonio, P.; Klug, T.; Yazdanpanah, G.; Haynes, C.; Zhou, H.; Hopkins, P.; Vogt, R.; Lee, R.; Cuthbert, C.; Petritis, K. Characterization of Dried Blood Spot Quality Control Materials for Lysosomal Enzyme Activity Assays Using Digital Microfluidic Fluorometry to Detect Lysosomal Storage Disorders in Newborns. Int. J. Neonatal Screen. 2025, 11, 44. https://doi.org/10.3390/ijns11020044
Dantonio P, Klug T, Yazdanpanah G, Haynes C, Zhou H, Hopkins P, Vogt R, Lee R, Cuthbert C, Petritis K. Characterization of Dried Blood Spot Quality Control Materials for Lysosomal Enzyme Activity Assays Using Digital Microfluidic Fluorometry to Detect Lysosomal Storage Disorders in Newborns. International Journal of Neonatal Screening. 2025; 11(2):44. https://doi.org/10.3390/ijns11020044
Chicago/Turabian StyleDantonio, Paul, Tracy Klug, Golriz Yazdanpanah, Christopher Haynes, Hui Zhou, Patrick Hopkins, Robert Vogt, Rachel Lee, Carla Cuthbert, and Konstantinos Petritis. 2025. "Characterization of Dried Blood Spot Quality Control Materials for Lysosomal Enzyme Activity Assays Using Digital Microfluidic Fluorometry to Detect Lysosomal Storage Disorders in Newborns" International Journal of Neonatal Screening 11, no. 2: 44. https://doi.org/10.3390/ijns11020044
APA StyleDantonio, P., Klug, T., Yazdanpanah, G., Haynes, C., Zhou, H., Hopkins, P., Vogt, R., Lee, R., Cuthbert, C., & Petritis, K. (2025). Characterization of Dried Blood Spot Quality Control Materials for Lysosomal Enzyme Activity Assays Using Digital Microfluidic Fluorometry to Detect Lysosomal Storage Disorders in Newborns. International Journal of Neonatal Screening, 11(2), 44. https://doi.org/10.3390/ijns11020044