Mucopolysaccharides Quantitative, Serum
Use
This test is useful for the quantification of dermatan sulfate, heparan sulfate, and keratan sulfate in serum to support the biochemical diagnosis of mucopolysaccharidoses (MPS) types I, II, III, IV, VI, or VII. The accumulation of undegraded glycosaminoglycans (GAGs) leads to progressive cellular dysfunction characteristic of these disorders. Dermatan, heparan, and keratan sulfates are markers for different MPS types, aiding in diagnosis and monitoring.
Special Instructions
Patient's age and reason for testing are required. For 6 hours before specimen collection, patient should not receive heparin to avoid assay interference. Follow-up testing must be performed to confirm a diagnosis.
Limitations
A normal keratan sulfate result does not exclude a diagnosis of MPS IVA. Heparin administration before specimen collection may interfere with assay results. The test alone is not diagnostic for a specific mucopolysaccharidosis.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- 93726-8
- 42349-1
- 2203-8
- 93725-0
- 93724-3
- 59462-2
- 18771-6
Result Turnaround Time
4-17 days
Related Documents
For more information, please review the documents below
Specimen
Serum
Volume
0.5 mL
Minimum Volume
0.2 mL
Container
Red top tube; Plastic vial for submission
Collection Instructions
Do not collect specimen from a line that may have been used to infuse heparin. Centrifuge and aliquot serum into a plastic vial.
Patient Preparation
For 6 hours before specimen collection, the patient should not receive heparin.
Causes for Rejection
Gross hemolysis OK; Gross lipemia OK; Gross icterus OK
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 90 days |
| Frozen | 90 days |