Description/indication
Peroxisomal defects.
Description
Plasmalogens are reduced in rhizomelic chondrodyplasia punctata (RCDP) type 1 (PEX7 defect), type 2 (DHAPAT), type 3 (alkyl DHAP synthase), type 4 (fatty acyl-CoA reductase 1 deficiency), type 5 (PEX5L defect) and Zellweger spectrum disorders.
Method
GC-FID
TAT
4 Weeks. If the test is performed in cultured fibroblasts the TAT is 3 months
Price
€ 216
€ 1055 for full biochemical peroxisomal screening in cultured fibroblasts.
For requests in blood please use Test request form Metabolite diagnostics and for requests in skin fibroblasts Test request form Enzyme diagnostics.
Test request form Metabolite diagnostics
Test request form Enzyme diagnostics
Materials:
Erythrocytes
- Amount: 1 ml of whole EDTA blood.
- Conditions: Room temperature.
- Specifics: Sample must arrive at our laboratory within 24 hours.
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.