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).
|Turn Around||18 days|
|Send to||Specialist Laboratory Medicine
St James hospital
|Collection Con||Minimum volume: 1.5 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 oligosaccharides and sialic acids: OLGU2J, Creatinine: CREU1J|
|ICE Codes||Urine oligosaccharides and sialic acids: LOLGU|