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CBS Diagnostic Service

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 to the left.

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 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.


 CBS diagnostic submission form