Referred Tests
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing. | |
Test ID: PDHC
Pyruvate Dehydrogenase Complex (PDHC), Fibroblasts
Useful For 
Suggests clinical disorders or settings where the test may be helpful
Evaluation of patients with a clinical suspicion of a pyruvate dehydrogenase complex deficiency or an energy metabolism disorder
Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request
Pyruvate dehydrogenase complex (PDHC) deficiency is a rare mitochondrial disorder with a clinical presentation consisting of metabolic and neurological components of varying severity.
PDHC should be considered in patients with early-onset neurological disease and unexplained lactic acidosis, especially if structural brain abnormalities are present.
This assay is intended as a screening test to detect decreases in total pyruvate dehydrogenase complex (PDHC) activity and is used for the evaluation of patients with a clinical suspicion of a pyruvate dehydrogenase complex deficiency or an energy metabolism disorder. It is not designed to detect cases of pyruvate dehydrogenase (PDH) kinase or phosphatase deficiencies. Additional molecular or enzymatic testing is necessary to determine the specific defect in the pyruvate dehydrogenase complex. Call 800-533-1710 for test options.
Additional Tests Lists tests that are always performed, at an additional charge, with the initial tests.
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| FIBR | Fibroblast Culture | Yes | Yes |
| CRYOB | Cryopreserve for Biochem Studies | No | Yes |
Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
When this test is ordered, a fibroblast culture and cryopreservation for biochemical studies will always be performed at an additional charge. However, for multiple lysosomal enzyme assays on a patient utilizing fibroblast culture, only 1 culture is required regardless of the number of enzyme assays ordered. If viable cells are not obtained within 30 days, client will be notified.
Special Instructions Library of PDFs including pertinent information and forms related to the test
Method Name A short description of the method used to perform the test
PDHC: Colorimetric Enzyme Assay
CRYOB: Fibroblast Subculture Followed by Cryopreservation and Storage
NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name Lists a shorter or abbreviated version of the Published Name for a test
Aliases Lists additional common names for a test, as an aid in searching
PDHC (Pyruvate Dehydrogenase Complex)