Mucopolysaccharides screen, urine
Clinical Background:
Mucopolysaccharidoses are disorders of the breakdown of glucosaminoglycans (GAGs). Clinical features include progressive connective tissue damage, dysmorphia, skeletal deformities, heptomegaly. Psy...
Mucopolysaccharidoses are disorders of the breakdown of glucosaminoglycans (GAGs). Clinical features include progressive connective tissue damage, dysmorphia, skeletal deformities, heptomegaly. Psychomotor retardation, respiratory disease and cardiac disease.
Quantitation of total GAGs is performed followed by 2D electrophoresis. Suggestive 2D patterns are confirmed by enzyme analysis in leucocytes.
MPS enzymes may be requested as follow-up to an abnormal urine screen or if known family history of a specific MPS disorder.
Test Details
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Discipline:
Biochemistry
Biochemistry
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Specimen Container Adult:
Urine (plain white top container)
Urine (plain white top container)
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Specimen Container Paediatric:
Urine (plain white top container)
Urine (plain white top container)
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Minimum Volume Adult:
3 mL
3 mL
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Minimum Volume Paediatric:
3 mL
3 mL
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Sample Stability:
Freeze the sample
Freeze the sample
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Transport Requirements:
First class post
First class post
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Routine Contact Name:
Duty biochemist
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Routine Telephone:
Freeman: 0191 244 8889
RVI: 0191 282 9719
Freeman: 0191 244 8889
RVI: 0191 282 9719
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Routine Email:
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Specialist Test:
Yes
Yes
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Specialist Contact Name:
Metabolic Clinical Scientist
Metabolic Clinical Scientist
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Specialist Telephone:
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
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Specialist Email: