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
3 - 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.
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3 - 14 days 3 - 14 days |
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3 - 14 days 3 - 14 days |
Related Documents
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) or tan-top (EDTA) tube (whole blood) or Whatman Protein Saver Card 903 (dried blood spot)
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Lavender-top (EDTA) |
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Lavender-top (EDTA) or tan-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.
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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: Pink top EDTA tubes, anticoagulant other than EDTA, specimen clotted; gross hemolysis; frozen specimen. Dried blood spot: Clotted; gross hemolysis; sample not properly dried; serum separated from cells.
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Whole blood: Pink top EDTA tubes, anticoagulant other than EDTA, specimen clotted; gross hemolysis; frozen specimen. 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
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/hr/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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