Arylsulfatase A Deficiency, Leukocytes
Also known as: ASA Deficiency, Metachromatic Leukodystrophy (MLD), MLD
Use
Diagnose patient with metachromatic leukodystrophy (MLD)
Special Instructions
Specimens must arrive in the lab within four days of collection to ensure accuracy of the test results. Refrigerate the specimen after collection and transport it using a cool pack or LabCorp transport kit. Do not allow the sample to freeze. Testing schedules may vary, and additional confirmatory or reflex tests might be required, which could extend the turnaround time.
Limitations
This assay does not identify patients with a rare form of MLD due to cerebroside sulfate activator protein deficiency. Unaffected pseudodeficiency homozygotes and compound heterozygotes cannot be distinguished from affected individuals by this assay. ASA activity is not an indicator for carrier status of MLD.
Methodology
Other
Biomarkers
LOINC Codes
- 24078-8
- 24078-8
Result Turnaround Time
4-14 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
15 mL
Minimum Volume
10 mL
Container
Yellow-top (ACD) tube
Collection Instructions
Refrigerate after collection. Transport to the testing facility using cool pack or LabCorp transport kit. Do not allow sample to freeze. Sample must arrive in the laboratory within four days of collection.
Storage Instructions
Refrigerate.
Causes for Rejection
Quantity not sufficient for analysis; specimen frozen; specimen not received within four days of collection; incorrect specimen collection tube; gross hemolysis; unable to isolate white blood cells
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 4 days |