C26:0-Lyso-PC

Disease

Zellweger spectrum disorders, ACOX1 deficiency, DBP deficiency, X-linked adrenoleukodystrophy (X-ALD) and ACBD5 deficiency.

Description

C26lysoPC is a marker for very long-chain fatty acid accumulation in phospholipid fraction and is increased in Zellweger spectrum disorders, ACOX1 deficiency, DBP deficiency, X-linked adrenoleukodystrophy and ACBD5 deficiency.

OMIM

214100  202370  264470  261515  300100

Method

HPLC-MS/MS

Price

€ 140
€ 950 for full biochemical peroxisomal screening in cultured fibroblasts.

Materials:


Cultured skin fibroblasts

  • Conditions: Room temperature.
  • Specifics:Grow the 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  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.