| 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 | |
Symptoms due to organic acid metabolism disorders, can quickly worsen and even lead to death without proper care and treatment. Because treatment is effective for the most common organic acidemias, early, accurate diagnosis is critical to prevent symptoms from worsening.
Our testing for organic acid metabolism includes biochemical and molecular assays for methylmalonic acidemias (cobalamin disorders), propionic acidemia, and glutaric acidemia. We are among the only laboratories in the world to offer chiral analysis for 2-hydroxyglutaric aciduria testing. In addition, molecular genetic testing for all of the organic acid and fatty acid metabolism testing presented here, and many others not included in pre-existing panels, is available through our custom gene ordering tool.
Biochemical testing
Biochemical testing
Molecular testing
Biochemical testing
Molecular testing
Biochemical testing
Molecular testing
Biochemical testing
Molecular 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