Fluorometric Enzyme Assay
Deficiency of lysosomal acid lipase (LAL) results in 2 clinically distinct phenotypes, Wolman disease (WD) and cholesteryl ester storage disease (CESD). Both phenotypes follow an autosomal recessive inheritance pattern and are caused by mutation in the LIPA gene.
> or =21.0 nmol/hour/mL
10 - 18 days
Draw blood in lavender, ACD or green top tube. Send whole blood to Specimen Processing refrigerated. DO NOT spin or aliquot
Test sent to Mayo Medical Laboratories.