Beta-Glucuronidase, Leukocytes
Use
The Beta-Glucuronidase, Leukocytes test supports the biochemical diagnosis of mucopolysaccharidosis type VII (MPS VII, Sly syndrome), a rare autosomal recessive lysosomal storage disorder. This disorder is caused by a deficiency of beta-glucuronidase, with symptoms ranging from severe lethal hydrops fetalis to milder late-onset forms affecting skeletal, facial, liver, and neurological development. Enzyme replacement therapy is available as a treatment option.
Special Instructions
For optimal isolation of leukocytes, the specimen should arrive refrigerated within 6 days of collection. Collection is only recommended from Monday through Thursday, avoiding days before holidays. Patient's age and reason for testing are required. New York clients must provide informed consent for genetic testing.
Limitations
This test is not useful for carrier detection of MPS VII. Individuals with pseudodeficiency alleles may show reduced enzyme activity, and carrier status cannot be reliably detected. Enzyme levels may appear normal in patients receiving enzyme replacement therapy or who have undergone a hematopoietic stem cell transplant.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- 24065-5
- 24065-5
- 42349-1
- 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 preferred, solution A acceptable), Lavender top (EDTA acceptable)
Collection Instructions
Send 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 |