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, Metabolic
Units: 
umol/l
Department: 
Biochemical Sciences Department
Location: 
St Thomas' Hospital
Sample type and Volume required: 
Bloodspot card. Two > 7mm diameter bloodspots. Blood must be soaked through and not multi-spotted.
Call in advance: 
Discuss with laboratory to arrange urgent analysis
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 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'

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Last updated: 07/08/2015