title: Digital microfluidics: a future technology in the newborn screening laboratory?
abstract: Expansion of newborn screening for inherited metabolic disorders using tandem mass spectrometry has generated interest in screening for other treatable conditions, including lysosomal storage diseases. Limitations to expansion include labor and equipment costs. We describe a cost-effective new platform that reduces the time to result reporting and can perform multiplexing assays requiring different platforms. Immunoassays and enzyme activity assays currently used in newborn screening have been translated to a disposable microchip programmed to dispense, transport, mix, wash, and incubate individual microdroplets from specimens, including dried blood spot extracts, and reagents all under software control. The specimen and reagents consumed are approximately 1% of those required by equivalent bench assays. In addition to immunologic and enzymatic assays, DNA amplification, amplicon detection, and sequencing have been demonstrated using the same microchips and control equipment. Recently, the multiplexing of 4 different enzyme activities has also been demonstrated with negligible cross-contamination. We review assays relevant to newborn screening.
authors.affiliation: Department of Pediatrics, Duke University Medical Center, Durham, NC 27713, USA. dmilli@duke.edu
authors.forename: David S
authors.initials: DS
authors.lastname: Millington
authors.forename: Ramakrishna
authors.initials: R
authors.lastname: Sista
authors.forename: Allen
authors.initials: A
authors.lastname: Eckhardt
authors.forename: Jeremy
authors.initials: J
authors.lastname: Rouse
authors.forename: Deeksha
authors.initials: D
authors.lastname: Bali
authors.forename: Ronald
authors.initials: R
authors.lastname: Goldberg
authors.forename: Michael
authors.initials: M
authors.lastname: Cotten
authors.forename: Rebecca
authors.initials: R
authors.lastname: Buckley
authors.forename: Vamsee
authors.initials: V
authors.lastname: Pamula
mesh_terms: D057075:Enzyme Assays / Q000379:methods; D006801:Humans; D007118:Immunoassay / Q000379:methods; D007231:Infant, Newborn; D046210:Microfluidic Analytical Techniques; D015997:Neonatal Screening / Q000379:methods*; D021141:Nucleic Acid Amplification Techniques / Q000379:methods