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
- Reference range
Please contact laboratory to discuss
- Synonyms
Amino acid, Metabolic
- Testing site
- Synnovis : Reference Services : Blackfriars Hub
- Laboratory
- Inherited Metabolic Disease
- 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
- Storage and transport
Store frozen but sample can be sent via 1st class post
- Turnaround time
95% reported within 6 working 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