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. Urine amino acids analysis can evaluate renal function, some specific amino acid disorders, and renal transport disorders. Plasma and urine amino acids values are compared to age-matched normal values. Quantitative analysis of amino acids can also be performed on spinal fluid. Filter paper analysis is used to monitor established patients diagnosed with PKU and MSUD.
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 creatinine.
This test is very sensitive for specific amino acid disorders, but detection can be sensitive to the age and eating status of the patient.
When sample fails to meet the acceptable criteria, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (firstname.lastname@example.org).
Type: Spinal Fluid (CSF)
Specimen Requirements:In a sterile container without additives: 1 ml
Note: Blood contamination can interfere with test results.
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.