|Values are valid only on day of printing.|
Evaluation of patients with a clinical suspicion of a pyruvate dehydrogenase complex deficiency or an energy metabolism disorder
This assay is intended to detect decreases in total pyruvate dehydrogenase complex (PDHC) activity; it is not designed to detect cases of pyruvate dehydrogenase (PDH) kinase or phosphatase deficiencies.
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 PDHC activity and is useful for the evaluation of patients with a clinical suspicion of a pyruvate dehydrogenase complex deficiency or an energy metabolism disorder.
Additional testing is necessary to determine the specific defect in the pyruvate dehydrogenase complex.
|Test ID||Reporting Name||Available Separately||Always Performed|
|CRYOB||Cryopreserve for Biochem Studies||No||Yes|
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.
PDHC: Colorimetric Enzyme Assay
CRYOB: Fibroblast Subculture Followed by Cryopreservation and Storage