Preferred Sample Type
Suitable Specimen Types
- Plain Spot Urine
- Li Hep Plasma
Specimen Transport
Send to referral laboratory frozen
Sample Processing in Laboratory
Send sample to the laboratory ASAP
Sample Preparation
Centrifuge blood and separate serum/plasma.
Turnaround Time
4 weeksSample Stability
-20 ºC
Amino Acids
General Information
Amino acid analysis is used to detect both primary disorders of amino acid metabolism e.g. maple syrup urine disease (MSUD) and disorders of renal tubular reabsorption e.g. cystinuria. In many disorders both plasma and urinary amino acids are increased. However in some diseases such as MSUD, methioninaemia and citrullinaemia, the urine amino acids may only be slightly increased, whilst in disorders of renal tubular reabsorption only urine amino acids are increased. Therefore ideally both urine and plasma should be analysed to reduce the risk of missing a diagnosis. Amino acid analysis can also be used for monitoring the treatment of inherited metabolic disorders e.g. homocystinuria, tyrosinaemia type 1, urea cycle defects, cystinuria, cystinosis.
Patient Preparation
None
Notes
Mid Stream Urine sample required for urine amino acids if possible. Fresh sample required. Lithium Heparin preferred but serum also acceptable.
Reference Range
Provided by Reference laboratory
Specifications
- EQA Scheme?: Yes
-
EQA Status:
Referral laboratory participates in schemes run by ERNDIN & NEQAS