Urine Oligosaccharide Analysis
|Test description||The urine oligosaccharide analysis is a semi-quantitative test useful in screening for alpha mannosidosis, beta mannosidosis, fucosidosis, sialidosis, beta galactosidase deficiency, galactosialidosis, Sandhoff disease, and aspartylglucosaminuria. Specific lysosomal enzyme analysis is necessary to confirm a diagnosis.|
|Methodology||Oligosaccharides are analyzed liquid chromatography tandem mass spectrometry (LC-MS/MS).
This new methodology improves the sensitivity and specificity of the test leading to fewer false positives.
Urine oligosaccharide analysis is also available on the Storage Disease Screening Panel.
Lysosomal enzyme testing may be indicated if urine oligosaccharides are elevated. Enzymes can be ordered individually or as part of a panel.
|Specimen Requirements||Urine (3 ml minimum)|
|Transport||Urine should be sent frozen on dry ice by courier or 24 hour delivery. Specimens may be brought by courier at ambient temperature if it can be delivered on the day of collection.|
|Turnaround time||21 days|
The Biochemical Lab provides diagnostic and screening tests for a variety of inherited metabolic disorders.