Plasma amino acids

Description: 
Analysis by liquid chromatography tandem mass spectrometry (LC-MS/MS), which provides a comprehensive targeted amino acid profile
Clinical details: 
For the investigation of suspected IMD including, for example the diagnosis and monitoring of phenylketonuria, urea cycle disorders, maple syrup urine disease and glycine encephalopathy.
Related condition or disease: 
Urea cycle disorders, disorders of amino acid metabolism and transport
Reference range: 

Please contact laboratory to discuss

Synonyms or keywords: 
Amino acid, Metabolic
Department: 
Reference Services
Location: 
Blackfriars Hub
Sample type and Volume required: 
Li Hep plasma. Minimum sample volume 500 uL plasma. Lipaemic samples are unsuitable.
Call in advance: 
Discuss with laboratory to arrange urgent analysis
Turnaround time: 
95% reported within 6 working days
Criteria for acceptance / rejections of sample
Storage and transport: 
Store frozen but sample can be sent 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

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Last updated: 21/04/2026