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Lysosomal Acid Lipase (LAL) Deficiency

CPT: 82657
Updated on 01/17/2020
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Synonyms

  • 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

    For more information, please view the literature below.

    Lysosomal Acid Lipase Deficiency Testing

    For more information, please view the literature below.

    Lysosomal Acid Lipase Deficiency Testing


    Specimen Requirements


    Specimen

    Whole blood (EDTA) or dried blood spot


    Volume

    3 mL whole blood or two circles dried blood spot


    Minimum Volume

    1 mL whole blood or one circle dried blood spot


    Container

    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


    Use

    Diagnose Wolman disease and cholesteryl ester storage disease (CESD) caused by LAL deficiency.


    Limitations

    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).


    Methodology

    Determination of enzyme activity against 4-methylumbelliferyl-palmitate


    References

    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

    LOINC® Map

    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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