Amino Acid Profile, Quantitative, Plasma

Condition Description

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.

Genes (0)


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

Listed below are EGL's preferred sample criteria. For any questions, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (
Submit only 1 of the following specimen types

Sodium Heparin (Green Top)
1-2 ml
Sample should be collected while fasting or 2-4 hours post prandial. Centrifuge to separate plasma and freeze.
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.
  • Organic Acids Quantitative Analysis (OA) is used in the diagnosis and evaluation of patients with metabolic conditions.

How to Order