VLCFA

Referred to Berkshire & Surrey Pathology Services, Frimley Park Hospital NHS Foundation Trust, Portsmouth Road, Frimley, Surrey GU16 7UJ
 

Alternative names, keywords

Very long chain fatty acids, C22, C24 and C26 fatty acids, phytanate, pristanate

Samples required

EDTA blood (purple cap/ yellow cap ring, 4 mL tube). Deliver to lab immediately after collection.

Patients over 18 months should ideally be fasting.

Test indications

For diagnosis and monitoring of Refsum disease and related conditions.

Reference range

See report.

Turnaround time

Referral lab quotes turnaround time of 23 working days, however additional time must be allowed for packing, dispatch and delivery of sample, and return and processing of results.

The referral laboratory has informed us that they are experiencing delays due to staff shortages, primarily due to COVID-19.

Urgent samples are being prioritised, therefore please provide as much clinical information as possible to help the referral lab determine the urgency of your request. If clinicians have samples from patients in whom a metabolic disorder is strongly suspected that they would like to be processed urgently, they should follow the usual procedure and discuss the case with the paediatric or adult metabolic clinical team at the Evelina London and St Thomas’ Hospital respectively. The laboratory will prioritise urgent samples in discussion with, and with direction from, the metabolic clinical teams.

 

Enquiries

Biochemistry (Referrals)

 

Details