Disease
Zellweger spectrum disorders , ACOX1 deficiency, DBP deficiency, AMACR deficiency, X-linked adrenoleukodystrophy (X-ALD) and SCPx deficiency.
Description
Fatty acid beta-oxidation is measured with radiolabeled C26:0 and pristanic acid, or a D3C22:0 loading test is performed. Beta-oxidation of very long-chain fatty acids (C22-C26) is deficient in Zellweger spectrum disorders, ACOX1 deficiency and DBP deficiency. Pristanic acid beta-oxidation is deficient in Zellweger spectrum disorders and DBP deficiency, and partially deficient in AMACR deficiency and SCPx deficiency.
OMIM
214100 202370 264470 261515 604489 184755
Method
Radiochemistry
Price
€ 833
€ 1055 for full biochemical peroxisomal screening in cultured fibroblasts.
Materials:
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.