Arylsulfatase B, Leukocytes
Use
This test supports the biochemical diagnosis of mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) in whole blood specimens. It is intended for patients with clinical signs and symptoms suspicious for MPS VI. Results indicating enzyme deficiency may warrant additional biochemical or molecular testing to confirm the diagnosis. MPS VI is a lysosomal storage disorder caused by a deficiency in N-acetylgalactosamine 4-sulfatase, leading to dermatan sulfate accumulation with variable clinical features such as short stature, dysostosis multiplex, and degenerative joint disease.
Special Instructions
Patient's age and reason for testing are required. Specimen should be sent in original tube and not aliquoted. Collection should occur Monday through Thursday, avoiding the day before holidays. Informed consent is required for New York clients, which should be documented on the request form or electronic order.
Limitations
This test is not useful for carrier detection for MPS VI. Individuals with pseudodeficiency alleles can show reduced enzyme activity. Carrier status cannot be reliably detected. Enzyme levels might normalize after enzyme replacement therapy or stem cell transplant.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- 24094-5
- 42349-1
- 24094-5
- 59462-2
- 18771-6
Result Turnaround Time
3-9 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); Acceptable: Yellow top (ACD solution A) or lavender top (EDTA)
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.
Causes for Rejection
Gross hemolysis
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 6 days |
| Refrigerated | 6 days |