Description
Urine screen for abnormal oligosaccharide excretion patterns, typically by mass spectrometry.
Indications
First-line biochemical screen for selected lysosomal storage disorders, oligosaccharidoses, and some congenital disorders of glycosylation.
Sample Type, Quantity & Conditions
Spot Urine
Special Precautions
Collect random urine, preferably first morning; no preservative. Freeze promptly for shipment and provide biochemical-genetics clinical information.
Normal Range
As per Report