Alpha-mannosidosis, Beta-mannosidosis, Fucosidosis, Sialidosis (Mucolipidosis type I), GM1 gangliosidosis (Morquio B), Galactosialidosis, Sandhoff disease, Aspartylglucosaminuria
Oligosaccharide Urine Analysis
Oligosaccharide Urine Analysis
This test is a semi-quantitative analysis used to screen patients for oligosacharidosis lysosomal storage diseases.
Clinical Information
Lysosomal storage diseases are a broad group composed of a variety of sub-groups of disorders, such as the mucopolysaccharidoses, the glycoproteinoses, and the sphingolipidoses. A lysosomal storage disease can present in a number of different ways. Infants or children may have growth failure, developmental regression, corneal or lens clouding, hepato- and/or splenomegaly, coarsening facial features and skeletal abnormalities. Some disorders are more likely to have a neurological presentation or present in adults. While a diverse group, different storage disease may have similar clinical features, thus it may be necessary to measure a number of different enzyme activities prior to finding the one deficient in a particular patient.
Technical Information
Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Specimen Requirements
Urine: A minimum of 2 mL random catch urine
Transport Instructions
Urine: Specimen should be frozen after collection and shipped frozen, preferably on dry ice
Associated Tests
- Alpha-mannosidosis Serum Oligosaccharide Analysis
- Alpha-mannosidosis: Alpha-mannosidase Enzyme Analysis
- Alpha-mannosidosis: MAN2B1 Sequencing
- Aspartylglucosaminuria: AGA Sequencing
- Aspartylglucosaminuria: Aspartyglucosaminidase Enzyme Analysis
- Beta-mannosidosis: Beta-mannosidase Enzyme Analysis
- Fucosidosis: Alpha-fucosidase Enzyme Analysis
- GM1 Gangliosidosis, Morquio Syndrome B (MPS IVB): Beta-galactosidase Enzyme Analysis
- GM1 Gangliosidosis/Morquio Syndrome B (MPS IVB): GLB1 Sequencing
- Sialidosis: NEU1 Sequencing
- Sialidosis: Sialidase (Alpha-Neuraminidase) Enzyme Analysis
- Tay-Sachs/Sandhoff Disease: Beta-hexosaminidase Enzyme Analysis
Connect With Our Experts
Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC