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.
Tube
Plain Universal
ID
29970
Availability
Weekdays
Turn around
18 days
Send to
Specialist Laboratory Medicine
Block 46
St James hospital
Beckett Street
Leeds
LS9 7TF
Contact
For further details please contact Leeds Pathology customer services: [email protected].
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 to 8ºC.
Please discuss with Biochemical Genetics lab prior to rejecting any samples.
Frequency
Weekly
Sample REQ
Urine
Ref. Range Notes
Descriptive report of results is provided. Contact Biochemical Genetics laboratory for further advice if required.