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
- Reference range
Please contact laboratory to discuss
- Synonyms
VLCFA, Metabolic
- Testing site
- Synnovis : Reference Services : Blackfriars Hub
- Laboratory
- Inherited Metabolic Disease
- Sample type and volume required
EDTA plasma (ideally FASTING / pre-prandial). Minimum sample volume 200 uL plasma. Haemolysed samples are unsuitable
- Storage and transport
Store frozen but sample can be sent
via 1st class post
- Turnaround time
3 weeks
- Contacts
Inherited Metabolic Diseases Unit at Blackfriars Hub
Phone: 020 4591 0070
IMD Duty Biochemist: 07592 502653
Email: ClinicalScientistIMD@synnovis.co.uk
Reference Chemistry
Floor 1, Synnovis hub
Friars Bridge Court
41-43 Blackfriars Road
London
SE1 8NZ