CBS DIAGNOSTIC SERVICE

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PLEASE FILL IN ALL THE REQUIRED INFORMATION IN THE FORM BELOW, PRINT THE FORM AND SUBMIT IT BY FIRST CLASS MAIL TO THE ADDRESS SHOWN BELOW.
Enzyme analysis for homocystinuria due to CBS deficiency.
Our service includes culturing of patient-derived skin fibroblasts to a sufficient density to allow for several assays of cystathionine ß-synthase (CBS) activity. In order to complete characterization of the patient's CBS deficiency, we perform  activity assays in the presence and absence of  the CBS activator S-adenosylmethionine.
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:

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.

 CBS diagnostic submission form