Preferred Sample Type

Amino Acids

Suitable Specimen Types

  • Plain Spot Urine
  • Li Hep Plasma
Qualitative: 0.5 mL( plasma/serum) 2mL (urine); Quantitative: 1.0 mL (plasma/serum) (Min 50uL) 0.5mL (CSF)

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 weeks

Sample 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

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Protection of Personal Information – Laboratory Medicine comply with the Trust Data Protection Policy and have procedures in place to allow the Directorate and it’s employees to comply with the Data Protection Act 1998 and associated best practice and guidance.

The Trust Laboratories at Heartlands Hospital, Good Hope Hospital and Solihull Hospital were awarded UKAS (United Kingdom Accreditation Service) accreditation to the internationally recognised ISO 15189 standard in May 2015. For a list of accredited tests and other information please visit the test database http://www.heftpathology.com/frontpage/test-database.html.
Tests not appearing on this scope are either under consideration or in the process of accreditation and so currently remain outside of our scope of accreditation. However, these tests have been validated to the same high standard as accredited tests and are performed by the same trained and competent staff.

For further information contact Louise Fallon, Quality Manager, 0121 424 1235

UKAS HEFT