ArticleClinica chimica acta; international journal of clinical chemistry2013
Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform.
Article in Clinica chimica acta; international journal of clinical chemistry, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 2 of them syntheses that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
50 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1.Orphanet journal of rare diseases · 2022Guideline
- Digital microfluidics comes of age: high-throughput screening to bedside diagnostic testing for genetic disorders in newborns.Expert review of molecular diagnostics · 2018Pooled it
- Detection of α-Galactosidase A Reaction in Samples Extracted from Dried Blood Spots Using Ion-Sensitive Field Effect Transistors.Sensors (Basel, Switzerland) · 2024Article
- Open and closed microfluidics for biosensing.Materials today. Bio · 2024Review
- Evaluation, in a highly specialised enzyme laboratory, of a digital microfluidics platform for rapid assessment of lysosomal enzyme activity in dried blood spots.JIMD reports · 2024Article
- Omics-Based Approaches for the Characterization of Pompe Disease Metabolic Phenotypes.Biology · 2023Review
- Research progress of electrode shapes in EWOD-based digital microfluidics.RSC advances · 2023Review
- Newborn Screening for Fabry Disease: Current Status of Knowledge.International journal of neonatal screening · 2023Review
- Review
- Mucopolysaccharidosis Type I Disease Prevalence Among Patients With Idiopathic Short Stature in Saudi Arabia: Protocol for a Multicenter Cross-sectional Study.JMIR research protocols · 2021Article
- Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans.Diagnostics (Basel, Switzerland) · 2021Article
- A Review on Microfluidics: An Aid to Assisted Reproductive Technology.Molecules (Basel, Switzerland) · 2021Review
- Cytogenetic and Biochemical Genetic Techniques for Personalized Drug Therapy in Europe.Diagnostics (Basel, Switzerland) · 2021Review
- At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening.International journal of neonatal screening · 2020Article
- Electrowetting-on-Dielectric Based Economical Digital Microfluidic Chip on Flexible Substrate by Inkjet Printing.Micromachines · 2020Article
- Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature.International journal of neonatal screening · 2020Article
- Digital Microfluidics in Newborn Screening for Mucopolysaccharidoses: A Progress Report.International journal of neonatal screening · 2020Review
- Newborn screening of mucopolysaccharidoses: past, present, and future.Journal of human genetics · 2020Review
- A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.International journal of neonatal screening · 2020Article
- Newborn Screening for Pompe Disease.International journal of neonatal screening · 2020Review
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
purposeNew 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.
methodsWe 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).
resultsOverall 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.
conclusionsDigital 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.
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