Lysosomal Acid Lipase (LAL) Deficiency

CPT: 82657
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Test Details


  • 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.


Determination of enzyme activity against 4-methylumbelliferyl-palmitate

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 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.

Clinical Information

Special Instructions

When submitting whole blood, specimen must arrive at the testing laboratory within 72 hours of collection.


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 402301 Specimen Type: 31208-2
402300 Lysosomal Acid Lipase Def 402303 Interpretation: 69426-5
402300 Lysosomal Acid Lipase Def 402304 Director Review: 72486-4
402300 Lysosomal Acid Lipase Def 402305 Methodology 49549-9
402300 Lysosomal Acid Lipase Def 402306 LAL Activity nmol/punch/h 73958-1

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