Gaugler Stefan, Rykl Jana, Wegner Irene, von Däniken Tamara, Fingerhut Ralph, Schlotterbeck Götz
CAMAG, Sonnenmattstr. 11, 4132 Muttenz, Switzerland.
Shimadzu Schweiz GmbH, Römerstrasse 3, 4153 Reinach, Switzerland.
Int J Neonatal Screen. 2017 Dec 29;4(1):2. doi: 10.3390/ijns4010002. eCollection 2018 Mar.
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.
本文介绍了一种全新的全自动新生儿质谱筛查方法。每个样本可在4分钟内检测出与病理相关的氨基酸、酰基肉碱和某些类固醇。每个样本均按照自动化和标准化流程进行处理，在提取前将氘代内标混合物喷洒在样本上。所有化合物均表现出良好的线性，日内和日间变化均在可接受标准范围内（天冬氨酸除外）。所描述的工作流程降低了分析成本和人力，同时提高了样本的可追溯性，符合良好实验室规范。
