Arylsulfatase A, Leukocytes
Use
Metachromatic leukodystrophy (MLD) is caused by a deficiency of the arylsulfatase A (ARSA) enzyme and leads to progressive neurologic changes. The preferred test to rule-out MLD, ARSA deficiency can result in sulfatide accumulation affecting the nervous system and other organs. Early detection is crucial for better clinical outcomes, as treatment options like hematopoietic stem cell transplant are available for early-stage symptoms.
Special Instructions
This test is not suitable for carrier detection. Specimen collection recommended between Monday and Thursday, not before a holiday, and should be refrigerated within 6 days of collection.
Limitations
This test is not reliable for carrier identification. Individuals with pseudodeficiency may show reduced ARSA levels without clinical symptoms. Some MLD cases may not be detected by this test alone. Confirmatory molecular genetic testing or additional studies may be recommended for an accurate diagnosis.
New York Approved
Methodology
Other
Biomarkers
LOINC Codes
- 24078-8
- 24078-8
- 59462-2
- 42349-1
- 18771-6
Result Turnaround Time
2-8 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
6 mL
Minimum Volume
5 mL
Container
Yellow top (ACD solution B or A)
Collection Instructions
Send whole blood specimen in original tube. Do not aliquot.
Storage Instructions
For optimal isolation of leukocytes, it is recommended the specimen arrive refrigerated within 6 days of collection to be stabilized.
Causes for Rejection
Gross hemolysis
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 6 days |
| Refrigerated | 6 days |