Disease

Zellweger spectrum disorders, ACOX1 deficiency, DBP deficiency and X-linked adrenoleukodystrophy (X-ALD)

Description

Immunofluorescence microscopy analysis with antibodies against peroxisomal proteins is used to determine whether in fibroblasts of the patient the morphology of peroxisomes is normal, whether there is normal import of peroxisomal matrix proteins (e.g. catalase) and whether peroxisomal membrane structures (ghosts) are present. The peroxisomal import system is disturbed in most Zellweger spectrum disorders and as a result catalase staining is generally cytosolic. Peroxisomal morphology can be also abnormal in Zellweger spectrum disorders and a subset of peroxisomal fatty acid oxidation defects (i.e. ACOX1 deficiency and DBP deficiency).

OMIM

214100 202370 264470 261515 300100

Method

Microscopy

Price

€ 472
€ 1055 for full biochemical peroxisomal screening in cultured fibroblasts.

Test request form Enzyme diagnostics

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.