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Shimadzu Review 80[3・4] (2023)
Abstract
Newborns are screened for inherited metabolic diseases in Europe, the United States, and many other countries. In Japan, newborns are typically screened for around 20 diseases, though tests for new diseases such are lysosomal storage diseases are being introduced as part of recent expanded screening. Newborn screening (NBS) tests are often performed on tandem mass spectrometers and other analytical instruments, and the inclusion of new diseases in NBS creates a need for new and more accurate analytical methods. Accordingly, research and development into new analytical technology is essential for effective NBS. This article describes two recent analytical technologies we have developed for NBS. First, we discovered that false positives in isovaleric acidemia testing can be reduced based on a reference ion ratio. Adding a reference ion check to the current analytical method used in NBS enabled differentiation between antibiotic-derived false positives and disease-derived positives. Second, we used an enzymic degradation as pretreatment of dried blood spot samples and optimized LC-MS/MS conditions in the analysis of glycosaminoglycans. These changes resulted in a highly sensitive and stable analytical method with excellent disease specificity.
1Clinical and Microbiological Testing Business Unit, Diagnostics Management Department, Analytical & Measuring Instruments Division, Shimadzu Corporation, Kyoto, Japan
2MS Business Unit, Life Science Business Department, Analytical & Measuring Instruments Division, Shimadzu Corporation, Kyoto, Japan
3Laboratories Division, Shimane University Hospital, Izumo, Japan
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