The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism

DH Chace, TA Kalas, EW Naylor - Annual review of genomics …, 2002 - annualreviews.org
This review is intended to serve as a practical guide for geneticists to current applications of
tandem mass spectrometry to newborn screening. By making dried-blood spot analysis
more sensitive, specific, reliable, and inclusive, tandem mass spectrometry has improved the
newborn detection of inborn errors of metabolism. Its innate ability to detect and quantify
multiple analytes from one prepared blood specimen in a single analysis permits broad
recognition of amino acid, fatty acid, and organic acid disorders. An increasing number of …