Don Mason reviews the state of newborn screening (NBS) programs around the world.
Waters’ legacy of purposeful innovation continues with the recently introduced RenataDX Screening System, a flow-injection tandem mass spectrometry system for high-throughput analysis of extracted dried blood spots and other physiological matrices.
Newborn screening for inherited metabolic disorders dates to the early 1960s when Dr. Robert Guthrie in Buffalo, New York developed the first screening test for phenylketonuria (or PKU), a metabolic disease in which patients can’t metabolize the amino acid phenylalanine.
Mass spectrometry has been game changer in newborn screening because rather than having a single test for a single condition, there was now a technique that provided a single test for a large number of different conditions.
Labs like King’s Liver Laboratories in London need to analyze thousands of samples with fast turnaround times, so it’s critical to have reliable LC-MS/MS instrumentation that works every day and provides accurate and precise results.
Not that long ago they were as big as a car and cost so much that only the most well-funded research institutions were able to afford them, along with the scientists that knew how to run them.