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.
Related condition or disease: 
Disorders of fatty acid oxidation, primary carnitine disorders, some organic acidaemias and ketolysis defects
Reference range: 

Please contact laboratory to discuss

Synonyms or keywords: 
Acylcarnitine, Carnitine, Metabolic
Units: 
umol/L
Department: 
Reference Services
Location: 
Blackfriars Hub
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

Criteria for acceptance / rejections of sample
Storage and transport: 
Send via 1st class post
Contacts:
Inherited Metabolic Diseases Unit at Blackfriars Hub
020 7188 9652
Reference Chemistry, 1st Floor Blackfriars Hub
Friars Bridge Court
Blackfriars Road
London
SE1 8NZ

IMD Duty Biochemist: 07592 502653
For clinical advice or interpretation of results, please contact the laboratory in the first instance.
Laboratory: 
Inherited Metabolic Disease Laboratory at Blackfriars Hub

Print as a PDF

Last updated: 30/01/2026