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Diagnose Wolman disease and cholesteryl ester storage disease (CESD) caused by LAL deficiency.
This test is not appropriate for determination of carrier status, as some clinical conditions may result in indeterminate enzyme activity levels.
This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).
Hamilton J, Jones I, Srivastava R, Galloway P. A new method for the measurement of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2. Clin Chim Acta. 2012 Aug 16; 413(15-16):1207-1210. PubMed 22483793
