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用于质谱检测的扩展型全自动新生儿筛查方法

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

作者信息

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

机构信息

CAMAG, Sonnenmattstr. 11, 4132 Muttenz, Switzerland.

Shimadzu Schweiz GmbH, Römerstrasse 3, 4153 Reinach, Switzerland.

出版信息

Int J Neonatal Screen. 2017 Dec 29;4(1):2. doi: 10.3390/ijns4010002. eCollection 2018 Mar.

Abstract

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/91b8/7548895/296e7a577fcb/IJNS-04-00002-g001.jpg

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