Amino Acid Profile, Quantitative, Urine

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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.

Indications

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.

Methodology

Quantitative ion exchange chromatography, reported as nm/mg creatinine.

Detection and Reference Range

Detection
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

Type: Urine

Specimen Requirements:

In a clean container without preservatives: 5 ml. Freeze.

Fasting or first void sample is preferable.

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.
  • Organic Acids Quantitative Analysis (OA) is used in the diagnosis and evaluation of patients with metabolic conditions.

How to Order