When a baby is born, a few drops of blood are collected by heel prick and spotted on filter paper. The dried blood spots are submitted to public health laboratories for a series of screening tests, which include the analysis of amino acids and fatty acid esters called acylcarnitines by mass spectrometry for the detection of more than 40 inherited disorders. This test is quite complex as one specimen may translate into more than 100 markers and ratios. Such profiles are routinely interpreted by applying analyte-based cutoff values and sequential algorithms, visual pattern recognition for certain data subsets may be helpful but it is subjective and inconsistent. Overall, the current status quo is of concern because the false positive rate can be as high as 1-2 percent in some programs and false negative events are pervasively frequent.
To improve analytical performance and patient outcomes, there is now a different way ...
