Test performed as part of a urine metabolic screen where clinically indicated. The mucopolysaccharidoses are lysosomal storage disorders caused by defects in breaking down glycosaminoglycans.
Presenting features may include dysmorphism, skeletal deformities, liver dysfunction, hernias, progressive psychomotor retardation, corneal clouding and cardiac problems.
|Turn Around||18 days|
|Send to||Specialist Laboratory Medicine
St James hospital
|Collection Con||Minimum volume: 3 mL
Instructions for lab: Send to Block 46. If storage required (overnight or over the weekend) store refrigerated at 2-8ºC.
Please discuss with Biochemical Genetics lab prior to rejecting any samples.
|Ref. Range Notes||Descriptive report of results is provided. Contact Biochemical Genetics laboratory for further advice if required.
|Telepath||Urine mucopolysaccharides: MPSU1J, Urine creatinine: CREU1J|
|ICE Codes||Urine mucopolysaccharides: LMPSU|