Screening assay provides early detection of inherited metabolic disorders in newborns
New kit from AB SCIEX for newborn screening could help lessen the severity of health problems caused by inherited metabolic disorders.
Inherited metabolic disorders in newborns can, if left undetected, cause mental and physical disabilities or even death. There is a small window of opportunity to determine if a baby is at risk of a serious condition prior to the appearance of symptoms, and as such, testing for indicators of these disorders needs to be accurate, comprehensive and timely. To help address these challenges, AB SCIEX (MA, USA) have recently announced a newborn screening assay designed for in vitro diagnostic use, in conjunction with the company’s MS instrumentation for clinical analysis.
According to a press release, clinical diagnostic laboratories in Europe will be able to analyze panels of amino acids and acylcarnitines simultaneously and obtain information about indicators of multiple metabolic disorders from the same sample in a single run. Examples of MS being used in newborn screening include measuring for markers of phenylketonuria, which can be treated with a special diet, and screening for indicators of medium-chain acyl-coenzyme dehydrogenase deficiency.
Rainer Blair, President of AB SCIEX, commented, “The ability to make a tremendous impact in the lives of families with newborn babies is part of the AB SCIEX mission to accelerate early detection in the most precise and comprehensive way possible. A baby will never know that mass spectrometry technology played such a fundamental role, but getting an accurate test result that reduces the false positives and false negatives that a clinical lab can obtain from alternative technologies, sure does reduce parental anxiety. The new AB SCIEX assay for newborn screening provides that kind of assurance.”
The screening kit will be shipped to selected European countries only, and the company plans to introduce additional kits in the future as well as extend its in vitro diagnostic solutions beyond Europe over time.
Source: AB SCIEX press release: Newborn Screening Solution from AB SCIEX provides early detection indicators of metabolic disorders to help doctors in Europe make babies’ health more predictable.
