Disease
RCDP type 1, 2 and 5, and Zellweger spectrum disorders.
Description
Dihydroxyacetonephosphate-acyltransferase (DHAPAT) is the first enzyme in the etherphospholipid (plasmalogen) biosynthesis route. DHAPAT activity is deficient in rhizomelic chondrodysplasia punctata (RCDP) type 1 (PEX7 defect), type 2 (DHAPAT defect) and type 5 (PEX5L defect), as well as in Zellweger spectrum disorders.
OMIM
Method
HPLC-MS/MS
Price
€ 472
€ 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.