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Test ID: PDHC    
Pyruvate Dehydrogenase Complex (PDHC), Fibroblasts

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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 test or proper submission of the test request

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.

Highlights

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.

Additional Tests Lists test(s) that are always performed, at an additional charge, with the initial test(s)

Test IDReporting NameAvailable SeparatelyAlways Performed
FIBRFibroblast CultureYesYes
CRYOBCryopreserve for Biochem StudiesNoYes

Testing Algorithm Delineates situation(s) 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 and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular 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 Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.

Conditional

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

Pyruvate Dehydrogenase Comp, Fibro

Aliases Lists additional common names for a test, as an aid in searching

PDC (Pyruvate Dehydrogenase Complex)
PDHC (Pyruvate Dehydrogenase Complex)

Key