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: 
St Thomas' Hospital
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 St Thomas' Hospital
0207 188 9652
St Thomas' Hospital
North Wing - 4th Floor
London
SE1 7EH
For clinical advice or interpretation of results, please contact the laboratory in the first instance.
Laboratory: 
Inherited Metabolic Disease Laboratory at St Thomas'

Print as a PDF

Last updated: 09/09/2022