title: Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics.
abstract: OBJECTIVE
  Easy tool for newborn screening of Gaucher and Hurler diseases.
  
  
  METHODS
  Method comparison between fluorometric enzymatic activity assay on a digital microfluidic platform and micro-titer plate bench assay was performed on normal (n = 100), Gaucher (n = 10) and Hurler (n = 7) dried blood spot samples.
  
  
  RESULTS
  Enzymatic activity analysis of glucocerebrosidase (Gaucher) and α-l-iduronidase (Hurler) revealed similar discrimination between normal and affected samples on both platforms.
  
  
  CONCLUSIONS
  Digital microfluidics is suitable for Gaucher and Hurler newborn screening.
authors.affiliation: Advanced Liquid Logic, Inc., Research Triangle Park, NC 27709, USA.
authors.forename: Ramakrishna S
authors.initials: RS
authors.lastname: Sista
authors.forename: Tong
authors.initials: T
authors.lastname: Wang
authors.forename: Ning
authors.initials: N
authors.lastname: Wu
authors.forename: Carrie
authors.initials: C
authors.lastname: Graham
authors.forename: Allen
authors.initials: A
authors.lastname: Eckhardt
authors.forename: Deeksha
authors.initials: D
authors.lastname: Bali
authors.forename: David S
authors.initials: DS
authors.lastname: Millington
authors.forename: Vamsee K
authors.initials: VK
authors.lastname: Pamula
mesh_terms: D059788:Dried Blood Spot Testing / Q000379:methods*; D057075:Enzyme Assays; D005776:Gaucher Disease / Q000097:blood / Q000175:diagnosis*; D005962:Glucosylceramidase / Q000097:blood; D006801:Humans; D007068:Iduronidase / Q000097:blood; D007231:Infant, Newborn; D044085:Microfluidics; D008059:Mucopolysaccharidosis I / Q000097:blood / Q000175:diagnosis*; D015997:Neonatal Screening
chemical_list: D005962:Glucosylceramidase; D007068:Iduronidase