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Lysosomal Acid Lipase (LAL) Deficiency
- Cholesteryl Ester Storage Disease (CESD)
- Wolman Disease
When submitting whole blood, specimen must arrive at the testing laboratory within 4 days of collection.
When submitting whole blood, specimen must arrive at the testing laboratory within
When submitting whole blood, specimen must arrive at the testing laboratory within s of collection.
Expected Turnaround Time
4 - 14 days
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
For more information, please view the literature below.
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 4 days of collection. Dried blood spot: Maintain specimen at room temperature.
Whole blood: Refrigerated transport must arrive at testing facility within
Whole blood: Refrigerated transport must arrive at testing facility within s 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.
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
|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|