Lysosomal Acid Lipase, Blood
Use
This test is used to evaluate patients with clinical signs suggestive of lysosomal acid lipase deficiency (LALD). LALD phenotypically manifests as either infantile-onset Wolman disease or later-onset cholesterol ester storage disease. It helps in diagnosing patients with clinical presentations indicative of these conditions by measuring enzyme activity levels in whole blood specimens.
Special Instructions
Not provided.
Limitations
This test is not useful to determine carrier status for cholesteryl ester storage disease or Wolman disease. Potential diagnostic confusion may arise due to improper specimen collection, handling, inappropriate test selection, or interfering substances. Specimens are evaluated for suitability by Mayo Clinic Laboratories.
New York Approved
Methodology
Other (Fluorometric Enzyme Assay)
Biomarkers
LOINC Codes
- 73958-1 - Cholest Est DBS-cCnc
- 73958-1 - Cholest Est DBS-cCnc
- 18771-6 - Provider signing name
- 59462-2 - Clinical biochemist review
Result Turnaround Time
2-8 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
2 mL
Minimum Volume
0.5 mL
Container
Preferred: Lavender top (EDTA); Acceptable: Yellow top (ACD) or green top (sodium heparin)
Causes for Rejection
Specimens will be evaluated for test suitability.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 7 days |
| Refrigerated | 7 days |