82657, 82658, 88233, 88240.
Monday - Friday, 0800 - 1700.
2 - 3 months (depending on growth rate of cultured cells).
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.
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
Interpretive Reference Range:
Normal range: 0.87 – 3.03 nmol/min/mg protein
Affected: < 0.85
Diagnosis of pyruvate dehydrogenase enzyme deficiency.
Release of radioactive CO2 derived from 1-14C-pyruvate.
The assay of citrate synthase is used as a control enzyme.