STAT: Amino Acid Profile, Plasma

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Condition Description

Plasma amino acid analysis will detect specific amino acid disorders such as phenylketonuria (PKU), maple syrup urine disease (MSUD), urea cycle defects, non-ketotic hyperglycinemia, and homocystinuria. Quantitative analysis of amino acids can also be performed to monitor established patients diagnosed with metabolic disorders.  Plasma amino acid values are compared to age-matched normal values.

Indications

This test is indicated in the case of:
  • Patients experiencing a metabolic crisis. 
  • Evaluation of patients with signs of a possible metabolic condition, such as lethargy, vomiting, and failure to thrive.
  • Monitoring known metabolic patients who have been hospitalized and for which a rapid analysis is essential.
  • Infants with a positive newborn screening result indicative of a metabolic disorder.

Methodology

Quantitative ion exchange chromatography, reported as micromoles/L. 

Detection

This test is very sensitive for specific amino acid disorders, but detection can also be sensitive to the clinical and nutritional status of the patient. 

Specimen Requirements

Type: Plasma

Specimen Requirements:

In sodium heparin (green top) tube: 1-2 ml
Sample should be collected while fasting or 2-4 hours postprandial.
Centrifuge to separate plasma and freeze.

Specimen Collection and Shipping: Ship frozen sample on dry ice with overnight delivery.

Special Instructions

Please indicate any medications or dietary changes on the test requisition form. 

STAT TESTING MUST BE COORDINATED WITH AND PREAPPROVED BY ONE OF THE DIRECTORS IN THE BIOCHEMICAL GENETICS LABORATORY.  Please call 855-831-7447.
  • STAT Organic Acids Quantitative Analysis (BOAST)
  • STAT Acylcarnitine Profile (BARST)

How to Order