Lysosomal Acid Lipase (LAL) Deficiency
Also known as: Cholesteryl Ester Storage Disease (CESD), Wolman Disease
Use
Diagnose Wolman disease and cholesteryl ester storage disease (CESD) caused by LAL deficiency.
Special Instructions
Not provided.
Limitations
This test is not appropriate for determination of carrier status, as some clinical conditions may result in indeterminate enzyme activity levels. Since it has not been FDA cleared or approved, the performance characteristics remain to be validated independently for different patient groups outside the test development environment.
Methodology
Other
Biomarkers
Lysosomal Acid Lipase Activity
Analyte
LOINC Codes
- 76615-4 - LAL Fib 4-MUP substrate-cCnt
- 76615-4 - LAL Fib 4-MUP substrate-cCnt
- 31208-2 - Specimen source
- 69426-5 - Medical director review
- 72486-4 - Lab director name Provider
- 49549-9 - Ref lab test method
Result Turnaround Time
3-14 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender-top (EDTA) or tan-top (EDTA) tube
Collection Instructions
Whole blood specimens must arrive at the testing facility within 4 days of collection. Refrigerated transport is required.
Storage Instructions
Refrigerated transport must arrive at the testing facility within 4 days of collection.
Causes for Rejection
Pink top EDTA tubes, anticoagulant other than EDTA, specimen clotted; gross hemolysis; frozen specimen.
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 4 days |
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