Plasmalogens

Disease

RCDP type 1-5, Zellweger spectrum disorder.

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.

OMIM

215100 222765 214100 202370 600121 616154 616716

Method

GC-FID

Price

€ 140
€ 950 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.