MUCOPOLYSACCHARIDES

The mucopolysaccharides are a group of inherited lysosomal storage disorders of connective tissue each with distinctive phenotypes and a progressive course due to severe deficiency of an enzyme which usually catalyses a step in the degradation of glycosaminoglycans. In general, excessive quantities of glycosaminoglycans are excreted in urine which can be analysed. Specific enzyme analyses must be run for a definitive diagnosis.

Mucopolysaccharides analysis is usually performed on urine. A mucopolysaccharide storage disorder should be considered in patients with:

  • coarse faeces
  • hepatosplenomegaly
  • developmental regression
  • corneal clouding
  • stiff joints
  • dystosis multiplex


Urine Sample Kit
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Postage & Packaging
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Laboratory Analysis
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Medical Questionnaire
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Interpretation of Results
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Copy of Laboratory Results
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Helpline Card
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Please contact us prior to purchasing this test.
CODE
MPS


TYPE
Urine test


RESULTS
33   working days after receipt of sample.


PRICE
£193.92


DISCOUNTED
£183.00  ?


CONTENTS
Mucopolysaccharides