Shimadzu Review Vol.74[1・2](2017)
Healthcare

SPECIALLY COLLECTED PAPERS

Rapid Analysis of Newborn Screening using Liquid Chromatography - Tandem Mass Spectrometry

by Toshikazu Minohata1and Tetsuo Tanigawa1

Shimadzu Review 74[1・2] (2017.8)

Abstract

In neonatal mass screening, blood samples from newborn babies are analyzed for the purposes of early disease detection and prevention with respect to disorders of amino acid metabolism and other congenital abnormalities. In Japan, this type of screening has been used approximately for 30 years. Recently, however, tandem mass spectrometry has become the focus of international attention as a new technique capable of detecting diseases.
By combining the Nexera MP with LC-MS/MS a system for analyzing multiple samples quickly at a high level of accuracy can be generated. As a result, this system allows us to handle increasing number of samples a year without impairing the sensitivity. Furthermore, we introduce analysis of enzymatic activity in lysosome using LCMS/MS.

Keywords: Newborn screening, Amino acid, Acylcarnitine, Lysosomal storage disease, LC-MS/MS, Dried blood spot


1Global Application Development Center, Analytical & Measuring Instruments Division, Shimadzu Corporation, Kyoto, Japan

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