Amino Acid Profile, Quantitative, Urine

Condition Description

Urine 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. Urine amino acids analysis can evaluate renal function, some specific amino acid disorders, and renal transport disorders. Urine amino acid values are compared to age-matched normal values.

Genes (0)


This test is indicated in the use 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 nm/mg creatinine.

Detection and Reference Range

This test is very sensitive for specific amino acid disorders, but detection can be sensitive to the clinical and nutritional status of the patient.
Reference Range
Call lab for reference ranges if needed.

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

Clean container without additives
1-5 ml ml
Freeze sample. Fasting or first void sample is preferable.
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

Requisition Forms

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