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.
They are a group of rare genetic disorders caused by the deficiency of enzymes needed to break down GAGs.
MPS screening may be part of some newborn screening programmes, but methods vary. Urine qualitative screening is different from newborn blood-spot screening.
It means no abnormal mucopolysaccharide pattern was detected in the sample.
It may be advised for children or adults with developmental delay, short stature, stiff joints, skeletal abnormalities, enlarged organs, or unusual facial features.
No. A negative urine result may not exclude every MPS type, particularly when clinical suspicion remains high.