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What is a MUCOPOLYSACCHARIDES (MPS) SCREEN QUALITATIVE?

Mucopolysaccharides (MPS) Screen Qualitative is a urine test that detects the presence and pattern of glycosaminoglycans (GAGs), substances that can accumulate when specific lysosomal enzymes are deficient. It is needed to screen for inherited metabolic disorders called mucopolysaccharidoses, particularly in individuals with developmental delay, skeletal abnormalities, enlarged organs, or distinctive facial features. Abnormal results require confirmatory enzyme and genetic testing.

Additional Information

Also known as/ Other names: Qualitative MPS Screening, Mucopolysaccharidosis Screening Test, Urine MPS Screen, Glycosaminoglycan (GAG) Screening Test
Parameters: 1
Recommended for: M/F/Others
Sample Type: Random Urine
Patient Preparation: No prior preparation is needed
Reports: 2 days

FAQs

What are mucopolysaccharidoses?

They are a group of rare genetic disorders caused by the deficiency of enzymes needed to break down GAGs.

Can the test be performed in newborns?

MPS screening may be part of some newborn screening programmes, but methods vary. Urine qualitative screening is different from newborn blood-spot screening.

What does a normal result mean?

It means no abnormal mucopolysaccharide pattern was detected in the sample.

Who may need this test?

It may be advised for children or adults with developmental delay, short stature, stiff joints, skeletal abnormalities, enlarged organs, or unusual facial features.

Does a normal result completely rule out MPS?

No. A negative urine result may not exclude every MPS type, particularly when clinical suspicion remains high.

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