Acylcarnitines
Description:
Tandem mass spectrometric analysis
Clinical details:
Acylcarnitine measurement is useful in the diagnosis of inborn errors of metabolism, including fatty acid oxidation defects, organic acidaemias and disorders of the carnitine shuttle.
Reference range:
Please contact laboratory to discuss
Synonyms or keywords:
Acylcarnitine, Carnitine, Metabolic
Units:
umol/L
Department:
Location:
Sample type and Volume required:
Bloodspot card. Minimum two >7mm diameter individual bloodspots. Bloodspots must NOT be multi-spotted, compressed or creased. Samples must be received into the laboratory within 14 days of collection.
Call in advance:
No
Turnaround time:
10 days
Special sample instructions:
Guthrie cards are the same as for the National Newborn Screening Programme. Please ensure bloodspot cards are clearly labelled requesting acylcarnitine analysis. Please include the clinical details with the request form for appropriate interpretation of results
Storage and transport:
Send 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
North Wing - 4th Floor
London
SE1 7EH
Last updated: 27/08/2024