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Denver Genetic Laboratories
 

Pyruvate Dehydrogenase Enzyme Activity Assay, Skin Fibroblasts

Clinical Test Information - UCD Biochemical Genetics Laboratory


 

CPT Codes:

82657, 82658, 88233, 88240.

Availability:

Monday - Friday, 0800 - 1700.

Turnaround Time:

2 - 3 months (depending on growth rate of cultured cells).

Specimen Requirements:

Two T-25 flasks of confluent fibroblasts, with plug-seal caps, completely filled with media.
Fibroblasts must be mycoplasma-free, and a statement as such must accompany the cell culture.

     NOTE: An additional fee of $460 will be charged for skin specimens that have not
     been cultured into confluent fibroblasts before shipment.

Specimen Handling:

Send flasks in a Styrofoam box at room temperature. Please include passage number (if known)
and any relevant information about the patient.

Primary contact for pyruvate dehydrogenase enzyme assay:

Marisa Friederich, PhD
Phone: 303-724-3841
Email: marisa.friederich@ucdemver.edu

Interpretive Reference Range:

Normal range: 0.87 – 3.03 nmol/min/mg protein
Affected: < 0.85

Use:

Diagnosis of pyruvate dehydrogenase enzyme deficiency.

Methodology:

Release of radioactive CO2 derived from 1-14C-pyruvate.
The assay of citrate synthase is used as a control enzyme.


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