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 : St Thomas' Hospital
- 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 7188 9652
IMD Duty Biochemist: 07592 502653
Reference Chemistry
Floor 1, Synnovis hub
Friars Bridge Court
41-43 Blackfriars Road
London
SE1 8NZ