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Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns.

Publication ,  Journal Article
Graham, C; Sista, RS; Kleinert, J; Wu, N; Eckhardt, A; Bali, D; Millington, DS; Pamula, VK
Published in: Clin Biochem
December 2013

OBJECTIVE: Newborn screening for biotinidase deficiency can be performed using a fluorometric enzyme assay on dried blood spot specimens. As a pre-requisite to the consolidation of different enzymatic assays onto a single platform, we describe here a novel analytical method for detecting biotinidase deficiency using the same digital microfluidic cartridge that has already been demonstrated to screen for five lysosomal storage diseases (Pompe, Fabry, Gaucher, Hurler and Hunter) in a multiplex format. METHODS: A novel assay to quantify biotinidase concentration in dried blood spots (DBS) was developed and optimized on the digital microfluidic platform using proficiency testing samples from the Centers for Disease Control and Prevention. The enzymatic assay uses 4-methylumbelliferyl biotin as the fluorogenic substrate. Biotinidase deficiency assays were performed on normal (n=200) and deficient (n=7) newborn DBS specimens. RESULTS: Enzymatic activity analysis of biotinidase deficiency revealed distinct separation between normal and affected DBS specimens using digital microfluidics and these results matched the expected activity. CONCLUSIONS: This study has demonstrated performance of biotinidase deficiency assays by measurement of 4-methylumbelliferyl product on a digital microfluidic platform. Due to the inherent ease in multiplexing on such a platform, consolidation of other fluorometric assays onto a single cartridge may be realized.

Duke Scholars

Published In

Clin Biochem

DOI

EISSN

1873-2933

Publication Date

December 2013

Volume

46

Issue

18

Start / End Page

1889 / 1891

Location

United States

Related Subject Headings

  • Umbelliferones
  • Neonatal Screening
  • Microfluidics
  • Infant, Newborn
  • Humans
  • General Clinical Medicine
  • Fluorometry
  • Enzyme Assays
  • Dried Blood Spot Testing
  • Biotinidase Deficiency
 

Citation

APA
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ICMJE
MLA
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Graham, C., Sista, R. S., Kleinert, J., Wu, N., Eckhardt, A., Bali, D., … Pamula, V. K. (2013). Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns. Clin Biochem, 46(18), 1889–1891. https://doi.org/10.1016/j.clinbiochem.2013.09.003
Graham, Carrie, Ramakrishna S. Sista, Jairus Kleinert, Ning Wu, Allen Eckhardt, Deeksha Bali, David S. Millington, and Vamsee K. Pamula. “Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns.Clin Biochem 46, no. 18 (December 2013): 1889–91. https://doi.org/10.1016/j.clinbiochem.2013.09.003.
Graham C, Sista RS, Kleinert J, Wu N, Eckhardt A, Bali D, et al. Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns. Clin Biochem. 2013 Dec;46(18):1889–91.
Graham, Carrie, et al. “Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns.Clin Biochem, vol. 46, no. 18, Dec. 2013, pp. 1889–91. Pubmed, doi:10.1016/j.clinbiochem.2013.09.003.
Graham C, Sista RS, Kleinert J, Wu N, Eckhardt A, Bali D, Millington DS, Pamula VK. Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns. Clin Biochem. 2013 Dec;46(18):1889–1891.
Journal cover image

Published In

Clin Biochem

DOI

EISSN

1873-2933

Publication Date

December 2013

Volume

46

Issue

18

Start / End Page

1889 / 1891

Location

United States

Related Subject Headings

  • Umbelliferones
  • Neonatal Screening
  • Microfluidics
  • Infant, Newborn
  • Humans
  • General Clinical Medicine
  • Fluorometry
  • Enzyme Assays
  • Dried Blood Spot Testing
  • Biotinidase Deficiency