description
Zellweger Spectrum disorders include Zellweger Syndrome, Neonatal AdrenoLeukoDystrophy (NALD) and Infantile Refsum Disease (IRD) and can be caused by mutations in any of at least 12 different PEX genes resulting in a defect in peroxisome biogenesis. Complementation testing requires skin fibroblasts from Zellweger spectrum disorder patients and allows the rapid identification of the defective PEX gene, which then can be sequenced. Before complementation testing can be performed, peroxisome deficiency has to be confirmed by catalase immunofluorescence microscopy analyses and very long-chain fatty acid analysis.
| OMIM |
214100 |
| gene | Complementation Testing |
|---|
| Turn around time | | Postnatal analysis | 2 - 6 months |
|
|---|
| Price | |
|---|
materials
| material | Cultured fibroblasts |
|---|
| conditions | Do not freeze or heat the samples! |
|---|
| specifics | Grow 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. |
|---|
| material | Skin biopsy - fibroblasts are cultured at lab GMD |
|---|
| conditions | Do not freeze or heat the samples! |
|---|
| specifics | If 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. |
|---|