Plasma amino acids analysis will detect specific amino acid disorders such as phenylketonuria (PKU), maple syrup urine disease (MSUD), urea cycle defects, non-ketotic hyperglycinemia and homocystinuria, etc. Plasma amino acids values are compared to age-matched normal values. Quantitative analysis of amino acids can also be performed to monitor established patients diagnosed with metabolic disorders.
This test is indicated in the case of:
- Infants with a positive newborn screening result indicative of a metabolic disorder.
- Evaluation of patients with signs of a possible metabolic condition, such as lethargy, vomiting, and failure to thrive.
- Monitoring for individuals diagnosed with a metabolic condition.
Quantitative ion exchange chromatography, reported as micromoles/L.
This test is very sensitive for specific amino acid disorders, but detection can be sensitive to the clinical and nutritional status of the patient.
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.
Please indicate any medications or dietary changes on the test requisition form.
- Organic Acids Quantitative Analysis (OA) is used in the diagnosis and evaluation of patients with metabolic conditions.