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Laboratory: Clinical Biochemistry  (METABOLIC)
Test Name:
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:
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.

Freeze specimen immediately and send frozen to HSC.
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
TAT: 1 month
See Also:
More Information:
Immediately freeze specimen
If you have any question, please communicate with the Metabolic Lab 204-787-4530.