| 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 | |
Sphingolipidoses are a group of more than 10 LDs that result from variation in the genes that encode lysosomal enzymes and activator proteins of sphingolipids (SL), a major class of lipids that play a vital role in the cellular lifecycle. Defects in the metabolism of SLs can cause accumulation of SLs and lead to several conditions, which mainly impact the neuronal and immune systems.
While there is no cure for sphingolipidoses and treatment options are limited, therapies such as enzyme replacement therapy and bone marrow transplantation have proven effective at treating specific conditions. Varied in clinical presentation, these disorders require a timely, accurate diagnosis in order to initiate treatment prior to symptom onset and achieve successful outcomes.
Among our offerings for sphingolipidoses are enzyme assays, biomarker testing, and molecular testing to confirm diagnosis, and monitoring assays to assist with disease management. Our unique biochemical urine screening test for lysosomal disorders with integrated interpretation is not available elsewhere. In addition, we offer molecular genetic testing for the disorders presented here, and many others not included in preexisting panels, through our custom gene ordering tool.
Biochemical testing
Molecular testing
Biochemical testing
Molecular testing
Biochemical testing
Biochemical testing
Molecular testing
Biochemical testing
Biochemical testing
Biochemical testing
Molecular 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