Lysosomal Acid Lipase (LAL) Deficiency

CPT: 82657
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  • Cholesteryl Ester Storage Disease (CESD)
  • Wolman Disease

Special Instructions

When submitting whole blood, specimen must arrive at the testing laboratory within 4 days of collection.

Expected Turnaround Time

4 - 14 days

Related Documents

For more information, please view the literature below.

Lysosomal Acid Lipase Deficiency Testing

Specimen Requirements


Whole blood (EDTA) or dried blood spot


3 mL whole blood or two circles dried blood spot

Minimum Volume

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)

Storage Instructions

Whole blood: Refrigerated transport must arrive at testing facility within 4 days 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.

Test Details


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


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. 22483793


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

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