Mucopolysaccharides Screen - Electrophoresis and Quantitation, Urine
Also known as: MPS SCREEN
Use
This test is used to evaluate symptomatic patients for mucopolysaccharidoses (MPS), a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down glycosaminoglycans (GAGs). It provides quantitative analysis to monitor these substances in the urine. If patients have been previously diagnosed with MPS, the test helps to check the level of glycosaminoglycans present.
Special Instructions
Frozen specimens are required, and care should be taken to avoid using specimens containing preservatives or those not kept frozen. The test is New York state approved and should be submitted with the MPS Testing Patient History Form.
Limitations
A normal result does not exclude the presence of Sanfilippo Syndrome (MPS Type III), as the excretion of Heparan Sulfate can be variable. The test does not differentiate between all types of mucopolysaccharidoses, and further genetic or enzymatic studies may be necessary for comprehensive diagnosis.
New York Approved
Methodology
Other
Biomarkers
LOINC Codes
- 46132-7
Result Turnaround Time
4-14 days
Related Documents
For more information, please review the documents below
Specimen
Urine
Volume
20 mL
Minimum Volume
10 mL
Collection Instructions
Collect urine. Morning void preferred. Immediately freeze the specimen after collection.
Patient Preparation
Morning void preferred.
Storage Instructions
Transport as frozen. Must remain frozen. Ambient and refrigerated conditions are unacceptable.
Causes for Rejection
Specimens containing preservatives.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Unacceptable |
| Refrigerated | Unacceptable |
| Frozen | 1 month (avoid repeated freeze/thaw cycles) |