Analysis of very long chain fatty acids in plasma for diagnosis of peroxisomal disorders is not available in the SAS laboratory but is carried out in the Clinical Biochemistry Department at Guy’s Hospital. This department also carries out the determination on fibroblasts or chorionic villous cells grown in the SAS laboratory for further characterisation or prenatal diagnosis of peroxisomal disorders. The method used is the Moser procedure: solvent extraction of sonicated samples, Folch partitioning, methanolysis, and thin-layer chromatographic isolation of fatty acid methyl esters followed by capillary gas-liquid chromatography.
Fibroblasts cultured from a skin biopsy are needed. Biopsy material should be collected aseptically into a sterile bottle containing tissue culture medium (available from the laboratory), and sent at room temperature to arrive at the laboratory within 24 hours.
Biopsies for tissue culture should not be frozen.
Fibroblast cultures established in other laboratories should be sent in plastic 25 cm2 flasks filled with medium.
The Laboratory Recommends Use Of A Courier Service Or Royal Mail Special Delivery For Sending All Specimens To The Laboratory.