| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
Oligosaccharidoses are a subgroup of lysosomal metabolism and storage disorders caused by defects in the glycoprotein degradation due to deficiencies of certain lysosomal enzymes. The clinical spectrum of oligosaccharidoses, like most lysosomal disorders (LDs), is widely variable. With variability in age of onset, severity, and system involvement, symptoms are diverse. However, neurologic features are frequently involved. Typically presenting with more severe manifestations in infancy, rarely oligosaccharidoses cases can present in adulthood.
Symptoms related to an oligosaccharidosis can be quite specific or pathognomonic, however, due to clinical overlap between these disorders and other LDs, laboratory testing to pinpoint diagnosis can be helpful to guide disease management.
Our oligosaccharidosis testing includes enzyme and biomarker analysis as well as molecular testing to assist in diagnosis and disease monitoring. In addition, molecular genetic testing for the disorders presented here, and many others not included in pre-existing panels, is available through our custom gene ordering tool.
Oligosaccharidosis test menu
Biochemical testing
Biochemical testing
Our custom gene ordering allows the creation of a custom gene list to tailor molecular testing to a patient’s exact need. After selection of the Inborn Errors of Metabolism disease state, the custom gene panel can be modified to add or remove genes. Through this option, single-gene testing or a custom gene panel can be performed.
Key testing