Lysosomal Acid Lipase Def
Cholesteryl Ester Storage Disease (CESD)
Diagnose Wolman disease and cholesteryl ester storage disease (CESD) caused by LAL deficiency.
Whole blood (EDTA) or dried blood spot
3 mL whole blood or two circles dried blood spot
1 mL whole blood or one circle dried blood spot
Lavender-top (EDTA) tube (whole blood) or Whatman Protein Saver Card 903 (dried blood spot)
Whole blood: Refrigerated transport must arrive at testing facility within 72 hours of collection. Dried blood spot: Maintain specimen at room temperature
Whole blood: specimen clotted; gross hemolysis; frozen specimen; anticoagulant other than EDTA. Dried blood spot: Clotted; gross hemolysis; sample not properly dried; serum separated from cells.