PCC DIAGNOSTIC SERVICE
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PLEASE FILL IN ALL THE REQUIRED INFORMATION IN THE
FORM BELOW AND PRINT THE FORM AND SUBMIT IT BY FIRST CLASS MAIL TO THE
ADDRESS SHOWN BELOW.
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 www.uchsc.edu/dnalab.
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.
!! ALL INFORMATION
MARKED WITH AN "*" MUST BE FILLED IN !!
Address for overnight shipment:
Jan P.Kraus, Ph.D.
UCD at Fitzsimons
Molecular Genetics Laboratory
Bldg. RC1 North Tower
Room P18-4403G
12800 E.19th Ave.
Aurora, CO 80045
U.S.A.