Lysosomal Acid Lipase Activity, Dried Blood Spot
Also known as: LAL DBS
Use
The Lysosomal Acid Lipase Activity test is used to assess the enzymatic activity in dried blood spots, aiding in the diagnosis of lysosomal storage disorders, specifically Lysosomal Acid Lipase Deficiency (LAL-D). This deficiency includes Cholesterol Ester Storage Disease and Wolman Disease, which are inherited conditions characterized by the body's inability to break down certain fats and cholesterols. Testing is crucial as early diagnosis and intervention can significantly affect prognosis, allowing consideration for relevant therapies such as enzyme replacement.
Special Instructions
Ensure blood is thoroughly dried before transportation. Additional clinical indication information may be required.
Limitations
This test cannot predict disease severity or carrier status for LAL-D. Normal enzyme activity may also be found in individuals undergoing enzyme replacement therapy. It does not exclude other lysosomal storage disorders or assess for other potential enzymatic deficiencies not related to LAL.
New York Approved
Methodology
Other
Biomarkers
LOINC Codes
- 48767-8
- 73958-1
Result Turnaround Time
3-10 days
Related Documents
For more information, please review the documents below
Specimen
Dried Blood Spot
Volume
Not provided
Minimum Volume
1 circle
Container
Whatman 903 Protein Saver Card (filter paper)
Collection Instructions
Collect whole blood on filter paper by direct puncture and allow to dry thoroughly. Two circles of whole blood required.
Storage Instructions
Room temperature preferred. Also acceptable: Refrigerated.
Causes for Rejection
Samples not dried before transport, not soaked through filter paper, heavily saturated, clotted, double-spotted, contaminated by external substances.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 1 week |
| Refrigerated | 1 week |
| Frozen | 1 month |