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
- Reference range
Please contact laboratory to discuss
- Units
umol/L
- Synonyms
Acylcarnitine, Carnitine, Metabolic
- Testing site
- Synnovis : Reference Services : Blackfriars Hub
- Laboratory
- Inherited Metabolic Disease
- 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
- 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
- Turnaround time
10 days
- 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