The standard initial screening for a peroxisomal disorder involves:
1) Investigation of the presence/absence and morphology of peroxisomes by catalase immunofluorescence;
2) very long-chain fatty acid analysis, and
3) DHAPAT activity measurement (dihydroxyacetonephosphate-acyltransferase, the first enzyme in the plasmalogen biosynthesis route). The results will indicate whether or not the patient suffers from a peroxisome biogenesis disorders or an isolated peroxisomal beta-oxidation deficiency. Additional tests can be performed, including peroxisomal alpha- and beta-oxidation activities or single enzyme activity measurements (e.g. Acyl-CoA oxidase I, D-bifunctional protein, Sterol carrier protein X).
Price
€ 1055 for full biochemical peroxisomal screening in cultured fibroblasts.
Material:
Cultured skin fibroblasts
- Conditions: Room temperature.
- Specifics: Grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample. - TAT: 3 months.