Lysosomal Acid Lipase, Blood Spot
Use
This test is intended for the evaluation of patients displaying symptoms suggestive of lysosomal acid lipase deficiency (LALD). LALD can present in two forms: infantile-onset Wolman disease or later-onset cholesterol ester storage disease. The test aids in diagnosing LALD by measuring enzyme activity in blood spots, which helps determine if the patient has a deficiency in lysosomal acid lipase, thereby affirming the presence of these disorders. Early diagnosis is crucial, as enzyme replacement therapy is available and can improve clinical outcomes.
Special Instructions
Not provided.
Limitations
This test is not useful for determining carrier status for cholesteryl ester storage disease or Wolman disease, as it is primarily designed for diagnostic evaluation. The accuracy of the test can be affected by improper specimen collection and handling, which may lead to diagnostic confusion.
New York Approved
Methodology
Other
Biomarkers
Lysosomal Acid Lipase
Analyte
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 Blood spots
Minimum Volume
1 Blood spot
Container
Blood spot collection card
Collection Instructions
Completely fill at least 2 circles on the filter paper card (approximately 100 microliters blood per circle). Alternative blood collection for patients older than 1 year is a fingerstick. Let blood dry for at least 3 hours at ambient temperature in a horizontal position. Do not expose to heat or direct sunlight. Keep specimen dry and do not stack wet specimens.
Causes for Rejection
Shows serum rings, Multiple layers
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 7 days |
| Refrigerated | 28 days |
| Frozen | 90 days |