Test performed as part of a urine metabolic screen where clinically indicated. Oligosaccharidoses are lysosomal storage disorders caused by defects in the breakdown of the carbohydrate side chains of glycoproteins.
Oligosaccharidoses are predominantly chronic disorders which present with clinical features similar to the mucopolysaccharidoses. They can, however, present early in life (from birth or within 1st year) (hydrops fetalis, cardiomegaly).
Tube
Plain Universal
ID
29974
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].
Advice
Collection Con
Minimum volume: 1.5 mL
Instructions for lab: Send to Block 46. If storage is 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.