Please fill in all the required information in the form below, print the form and submit it by first class mail to the address show to the left.
Enzyme analysis for propionic acidemia due to PCC deficiency.
Our service includes culturing of patient-derived skin fibroblasts to a sufficient density to allow for several assays of propionyl-CoA carboxylase (PCC) activity. As an internal control we perform beta-methylcrotonyl-CoA carboxylase (MCC) activity assays. An inclusion of skin fibroblast culture from at least one of the parents may make it possible to determine whether the pathogenic mutation occurred in the alpha or beta subunit of the enzyme.
DNA ANALYSIS- Please inquire at Denver Genetic Laboratories.
Sample transport information.
Please call Dr. Jan P. Kraus at (303)-724-3812 prior to shipping. For analysis we require two 25 cm3 flasks of skin fibroblasts completely filled with medium and with the caps tightly sealed and wrapped with a layer of parafilm. The culture medium we recommend is MEM supplemented with 10-15 % serum, 100U/ml penicillin-G, 100mcg/ml Streptomycin and 2 mM L-glutamine). Please, let us know if you are using different antibiotics or different concentrations in the media. Ship well wrapped at ambient temperature in a styrofoam container.
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PCC diagnostic submission form