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- Cholesteryl Ester Storage Disease (CESD)
- Wolman Disease
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).
Determination of enzyme activity against 4-methylumbelliferyl-palmitate
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
Whole blood: Refrigerated transport must arrive at testing facility within 72 hours of collection. Dried blood spot: Maintain specimen at room temperature.
Causes for Rejection
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.
When submitting whole blood, specimen must arrive at the testing laboratory within 72 hours of collection.
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|402300||Lysosomal Acid Lipase Def||76615-4||402301||Specimen Type:||31208-2|
|402300||Lysosomal Acid Lipase Def||76615-4||402307||LAL Activity||pmol/h/punch||76615-4|
|402300||Lysosomal Acid Lipase Def||76615-4||402303||Interpretation:||69426-5|
|402300||Lysosomal Acid Lipase Def||76615-4||402304||Director Review:||72486-4|
|402300||Lysosomal Acid Lipase Def||76615-4||402305||Methodology||49549-9|
|402300||Lysosomal Acid Lipase Def||76615-4||402308||Disclaimer:||N/A|