Qualitative screen for all amino acids.
Please Note: Qualitative screen does not provide numeric concentration values.
Monday - Friday, 0800 - 1700.
0.1 mL (at least 0.3 mL preferred).
Centrifuge and separate from cells within 1 hour of drawing. Refrigerate or freeze serum or plasma.
Interpretive Reference Range:
Screening for inborn errors of amino acid metabolism.
Should always be done in conjunction with urine amino acid analysis. Detection of some
disorders, e.g. sarcosinemia, requires quantitative analysis.
A variety of inherited metabolic disorders result in aminoacidemia. These include phenylketonuria, maple syrup urine disease, cystathionine synthase deficiency (homocystinuria), citrullinemia, hyperlysinemia and hyperprolinemia. Some disorders, e.g. argininosuccinic acidemia, cystinosis and Hartnup disease, are better screened for in urine than blood. CSF amino acids are necessary in the diagnosis of nonketotic hyperglycinemia (glycine encephalopathy).