Validation of a Fast, Robust, Inexpensive, Two-Tiered Neonatal Screening Test algorithm on Dried Blood Spots for Spinal Muscular Atrophy

Annuska Strunk; Andre Abbes; Antoine R. Stuitje; Chris Hettinga; Eline Sepers; Reinier Snetselaar; Jan Schouten; Fay-Lynn Asselman; Inge Cuppen; Henny Lemmink; W. Ludo  van der Pol; Henk Engel

doi:10.3390/ijns5020021

International Journal of Neonatal Screening (May 2019)

Validation of a Fast, Robust, Inexpensive, Two-Tiered Neonatal Screening Test algorithm on Dried Blood Spots for Spinal Muscular Atrophy

Annuska Strunk,
Andre Abbes,
Antoine R. Stuitje,
Chris Hettinga,
Eline Sepers,
Reinier Snetselaar,
Jan Schouten,
Fay-Lynn Asselman,
Inge Cuppen,
Henny Lemmink,
W. Ludo van der Pol,
Henk Engel

Affiliations

Annuska Strunk: Department of Clinical Chemistry and Neonatal Screening, Isala Hospital, Dokter van Heesweg 2, 8025 AB Zwolle, The Netherlands
Andre Abbes: Department of Clinical Chemistry and Neonatal Screening, Isala Hospital, Dokter van Heesweg 2, 8025 AB Zwolle, The Netherlands
Antoine R. Stuitje: MRC-Holland, Willem Schoutenstraat 1, 1057 DL Amsterdam, The Netherlands
Chris Hettinga: MRC-Holland, Willem Schoutenstraat 1, 1057 DL Amsterdam, The Netherlands
Eline Sepers: MRC-Holland, Willem Schoutenstraat 1, 1057 DL Amsterdam, The Netherlands
Reinier Snetselaar: MRC-Holland, Willem Schoutenstraat 1, 1057 DL Amsterdam, The Netherlands
Jan Schouten: MRC-Holland, Willem Schoutenstraat 1, 1057 DL Amsterdam, The Netherlands
Fay-Lynn Asselman: Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands
Inge Cuppen: Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands
Henny Lemmink: Department of Genetics, University Medical Center Groningen, Antonius Deusinglaan 1, 9713 AV Groningen, The Netherlands
W. Ludo van der Pol: Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands
Henk Engel: Department of Clinical Chemistry and Neonatal Screening, Isala Hospital, Dokter van Heesweg 2, 8025 AB Zwolle, The Netherlands

DOI: https://doi.org/10.3390/ijns5020021
Journal volume & issue: Vol. 5, no. 2
p. 21

Abstract

Read online

The MC002 test showed the feasibility and accuracy of SMA screening in a neonatal screening program.

Published in International Journal of Neonatal Screening

ISSN: 2409-515X (Online)
Publisher: MDPI AG
Country of publisher: Switzerland
LCC subjects: Medicine: Pediatrics
Website: https://www.mdpi.com/journal/ijns

About the journal

Abstract

Keywords