Laboratory Genetic Metabolic Diseases AMC

disease

Propionic aciduria

description

Propionyl-CoA carboxylase (PCC) catalyzes the carboxylation of propionyl-CoA, derived from different precursor such as valine and isoleucine, to methylmalonyl-CoA.

OMIM606054 

materials

materialCultured fibroblasts
conditionsDo not freeze or heat the samples!
specificsGrow the cells to near confluence in a T-25 flask, fill the flask completely with sterile culture media, cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information and date of collection, wrap in protective material and place in a sealed plastic bag in the Styrofoam shipping box.
turn around time3 months
price€ 350 (+ 100 for fibroblast culturing)
materialSkin biopsy - fibroblasts are cultured at lab GMD
conditionsDo not freeze or heat the samples!
specificsIf no fibroblasts are available yet, please send the skin biopsy in sterile culture medium without serum. The biopsy should be transported at room temperature by courier service within 48 – 72 hrs.
turn around time3 months
price€ 350 (+ 150 for fibroblast culturing from skin biopsy)