Mucopolysaccharidosis, Blood
Use
This test supports the biochemical diagnosis of mucopolysaccharidoses type I, II, III, IV, or VI by quantifying heparan sulfate, dermatan sulfate, and keratan sulfate in whole blood specimens. It aids in the diagnosis and monitoring of patients with these types of mucopolysaccharidosis. Accumulation of undegraded glycosaminoglycans leads to progressive cellular dysfunction and exhibits the clinical features typical of these disorders.
Special Instructions
Not provided.
Limitations
The test is not orderable until July 25, 2025, due to analytic issues. The presence of heparin before specimen collection may interfere with the assay and results should be interpreted with caution. The test was developed and its performance characteristics were determined by Mayo Clinic in a manner consistent with CLIA requirements, but it has not been cleared or approved by the US FDA.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- 94586-5 - MPS panel DBS
- 90233-8 - Dermatan Sulfate DBS-sCnc
- 90235-3 - Heparan sulfate DBS-sCnc
- 90236-1 - Keratan Sulfate DBS-sCnc
- 59462-2 - Clinical biochemist review
- 18771-6 - Provider signing name
Result Turnaround Time
3-7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
2 mL
Minimum Volume
0.5 mL
Container
Lavender top (EDTA), Yellow top (ACD)
Collection Instructions
Do not collect specimen from a line that might have been used to infuse heparin or has been flushed with heparin.
Patient Preparation
For 6 hours before specimen collection, patient should not receive heparin.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 7 days |
| Refrigerated | 7 days |