Screening mitochondrial β-oxidation
A palmitate loading test (acylcarnitine profiling) is performed to establish whether a patient suffers from a mitochondrial fatty acid oxidation defect. Each disorder is associated with a specific acylcarnitine profile. Subsequently, the enzyme deficiency has to be confirmed by analysis of the activity of that particular enzyme (see list of tests) or in case of a suspected multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) by molecular analysis (see DNA diagnostics). Note that certain mild deficiencies can be associated with a normal acylcarnitine profile. In addition, the palmitate loading test can be performed to study the effect of mutations in the genes encoding the different β-oxidation enzymes on the flux through the mitochondrial β-oxidation system.
Price
€ 722.
€ 833 for a palmitate loading test plus one single β-oxidation enzyme activity measurement.
€ 1055 for a palmitate loading test and oleate β-oxidation measurement.
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.