Quality control for selective screening of inborn errors of metabolism.
A comprehensive program for proficiency testing of biochemical genetics laboratories is described. Inborn errors of metabolism of amino acids, organic acids, glycosaminoglycans and oligosaccharides are covered, as well as the assay of galactose-1-phosphate. Participants are not only required to report the analytical results but to give an interpretation of the results as well. Sixteen rounds of testing have been completed. A slow, but definite improvement in performance can be observed.
Department of Pediatrics, New York University Medical Center, NY 10016.
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Hommes
D000596:Amino Acids / Q000032:analysis; D006801:Humans; D007231:Infant, Newborn; D008403:Mass Screening / Q000592:standards; D008661:Metabolism, Inborn Errors / Q000517:prevention & control*; D011786:Quality Control
D000596:Amino Acids