Extended and Fully Automated Newborn Screening Method for Mass Spectrometry Detection.

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作者:Gaugler Stefan, Rykl Jana, Wegner Irene, von Däniken Tamara, Fingerhut Ralph, Schlotterbeck Götz
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.

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