| Laboratory: | Clinical Biochemistry (METABOLIC) |
| Test Name: |
MUCOPOLYSACHARIDES SCREEN (MPS) - (U)
Test Code:
MPS
|
| Clinical Information: |
Test Indications: The mucopolysaccharidoses (MPS) are a group of inherited disorders caused by the deficiency of any of the specific lysosomal enzyme required for the degradation of dermatan sulfate, heparan sulfate, keratan sulfate or chondroitin sulfate (glycosaminoglycans, GAG). Undegraded or partially degraded mucopolysaccharides are stored in lysosomes and excreted in urine. The accumulation of mucopolysaccharides in various organs causes progressive multisystem disease, often involving organomegaly, skeletal abnormalities, “coarse” facial features and intellectual disabilities.
This dimethylene blue (DMB) screening test is the first step in the diagnosis of all MPS disorders. Positive MPS screening results will be send out to a reference lab for confirmation by LC-MSMS. (see Mucopolysaccharide Fractionation - (U)). If the DMB screen test is negative but there are a strong clinical suspicion of a Mucopolysaccharidosis, please communicate with the biochemical geneticist. This test is lab developed method performed by spectrophotometry at Metabolic Lab, HSC. |
| Collection Devices: |
Preferred Device:
1 - Urine Collection Container, Leak-Proof Random 100mL
- Early morning (preferred)
Random No preservatives |
| Specimen Required: |
Urine: 10.0 mL
Pediatric Urine: 5.0 mL
Minimum pediatric volume: 3 mL* * If less than 3 mL, please call the metabolic lab. |
| Referral: |
Freeze specimen immediately and send frozen to HSC.
|
| Requisition: | |
| Reference Values: |
Age: MPS (U/mmol creat.)
0 - 3 months Less than 54 4 - 18 months Less than 35 19 - 36 months Less than 21 37 - 84 months Less than 16 8 - 16 years Less than 10 > 16 years Less than 4 |
| Availability: |
Routine
TAT: 1 month
|
| See Also: | |
| More Information: |
Immediately freeze specimen
If you have any question, please communicate with the Metabolic Lab 204-787-4530. |