A highly multiplexed biochemical assay for analytes in dried blood spots: application to newborn screening and diagnosis of lysosomal storage disorders and other inborn errors of metabolism.

Xinying HongMartin SadilekMichael H Gelb

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

We report a highly multiplexed UPLC-MS/MS assay that is appropriate for the newborn screening of 15 lysosomal storage diseases and 3 additional inborn errors. It can be further expanded to include additional conditions for which presymptomatic diagnosis may facilitate optimum treatment outcome.

Keyphrases

ms ms
high throughput
single cell
patient safety
adverse drug
liquid chromatography tandem mass spectrometry
mass spectrometry
quality improvement