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Int. J. Neonatal Screen. 2018, 4(1), 2;

Extended and Fully Automated Newborn Screening Method for Mass Spectrometry Detection

CAMAG, Sonnenmattstr. 11, 4132 Muttenz, Switzerland
Shimadzu Schweiz GmbH, Römerstrasse 3, 4153 Reinach, Switzerland
Institute of Chemistry and Bioanalytics, University of Life Sciences, University of Applied Sciences Northwestern Switzerland FHNW, Gründenstr. 40, 4132 Muttenz, Switzerland
Swiss Newborn Screening Laboratory, Division of Metabolism and Children’s Research Center, University Children’s Hospital Zurich, Steinwiesstrasse 75, 8032 Zurich, Switzerland
Author to whom correspondence should be addressed.
These authors have contributed equally to the work.
Received: 12 September 2017 / Revised: 18 October 2017 / Accepted: 23 December 2017 / Published: 29 December 2017
PDF [2484 KB, uploaded 29 December 2017]


A new and fully automated newborn screening method for mass spectrometry was introduced in this paper. Pathological relevant amino acids, acylcarnitines, and certain steroids are detected within 4 min per sample. Each sample is treated in an automated and standardized workflow, where a mixture of deuterated internal standards is sprayed onto the sample before extraction. All compounds showed good linearity, and intra- and inter-day variation lies within the acceptance criteria (except for aspartic acid). The described workflow decreases analysis cost and labor while improving the sample traceability towards good laboratory practice. View Full-Text
Keywords: newborn screening (NBS); dried blood spots (DBS); automation newborn screening (NBS); dried blood spots (DBS); automation

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Gaugler, S.; Rykl, J.; Wegner, I.; Von Däniken, T.; Fingerhut, R.; Schlotterbeck, G. Extended and Fully Automated Newborn Screening Method for Mass Spectrometry Detection. Int. J. Neonatal Screen. 2018, 4, 2.

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Int. J. Neonatal Screen. EISSN 2409-515X Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
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