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 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.
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
MS 8313, 12800 E.19th Ave.
P.O.BOX 6511
Aurora, CO 80045
U.S.A.