Plasma amino acids

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.
Reference range: 

Please contact laboratory to discuss

Synonyms or keywords: 
Amino acid, Metabolic
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
Storage and transport: 
Store frozen but sample can be sent via 1st class post
Inherited Metabolic Diseases Unit at St Thomas' Hospital
0207 188 9652
St Thomas' Hospital
North Wing - 4th Floor
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 30/05/2018