Very long Chain Fatty Acids (VLCFA) - including phytanate and pristanate

Description: 
Analysis by GS-MS
Clinical details: 
Indicated in the investigation of a number of peroxisomal disorders where there is a defect in the metabolism or processing of long chain fatty acids. Patients may present with a spectrum of disease from life-threatening neonatal addisonian crises and severe hypotonia to progressive neurological deterioration and peripheral neuropathy in adults.
Related condition or disease: 
Peroxisomal biogenesis defects, Zellweggers syndrome, Refsum disease, X-linked adrenoleukodystrophy, adrenomyleoneuropathy
Reference range: 

Please contact laboratory to discuss

Synonyms or keywords: 
VLCFA, Metabolic
Department: 
Biochemical Sciences Department
Location: 
Blackfriars Hub
Sample type and Volume required: 
EDTA plasma (ideally FASTING / pre-prandial). Minimum sample volume 200 uL plasma. Haemolysed samples are unsuitable
Turnaround time: 
3 weeks
Criteria for acceptance / rejections of sample
Storage and transport: 
Store frozen but sample can be sent via 1st class post
Contacts:
Inherited Metabolic Diseases Unit at Blackfriars Hub
07592 502653
Reference Chemistry, 1st Floor Blackfriars Hub
Friars Bridge Court
Blackfriars Road
London
SE1 8NZ
For clinical advice or interpretation of results, please contact the laboratory in the first instance.
Laboratory: 
Reference Chemistry at the Blackfriar's Hub

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Last updated: 08/10/2025