Arylsulfatase A, Leukocytes, Blood
Also known as: ARYL LEUK
Use
The Arylsulfatase A, Leukocytes, Blood test is primarily used for the detection of arylsulfatase A deficiency. This condition is associated with metachromatic leukodystrophy (MLD), a genetic disorder that affects the nervous system, leading to progressive degeneration of white matter in the brain. The test measures the activity of arylsulfatase A in leukocytes and is used to support the diagnosis of MLD. Although not suitable for carrier detection, the test can identify reduced enzyme activity indicative of MLD, pseudoarylsulfatase A deficiency, or multiple sulfatase deficiency.
Special Instructions
Collect sample from patient Monday-Wednesday only and not the day before a holiday. For New York clients, informed consent is required and must be documented on the request form or electronic order that a copy is on file.
Limitations
This test is not suitable for carrier detection and will not detect some patients with MLD, including those with atypical MLD due to Saposin B deficiency. The test is quantitative and analyzes arylsulfatase A activity, but does not exclude the presence of metachromatic leukodystrophy. Additional testing, such as urine sulfatide analysis and molecular testing, is recommended for comprehensive evaluation.
New York Approved
Methodology
Other
Biomarkers
LOINC Codes
- 24078-8
- 59462-2
- 42349-1
- 18771-6
Result Turnaround Time
6-12 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
6 mL
Minimum Volume
5 mL
Container
Yellow (ACD solution B), also acceptable: Yellow (ACD solution A)
Patient Preparation
Collect Monday-Wednesday only and not the day before a holiday.
Storage Instructions
Refrigerated. Also acceptable: Room temperature.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 6 days |
| Refrigerated | 6 days |
| Frozen | Unacceptable |