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Denver Genetic Laboratories
 

Amino Acid Screen, Qualitative, Serum or Plasma

Clinical Test Information - UCD Biochemical Genetics Laboratory


 

CPT Code:

82128

Test Includes:

Qualitative screen for all amino acids.

Please Note: Qualitative screen does not provide numeric concentration values.

Availability:

Monday - Friday, 0800 - 1700.

Turnaround Time:

2-10 days.

Minimum Volume:

0.1 mL (at least 0.3 mL preferred).

Specimen Handling:

Centrifuge and separate from cells within 1 hour of drawing. Refrigerate or freeze serum or plasma.

Interpretive Reference Range:

Subjective interpretation.

Use:

Screening for inborn errors of amino acid metabolism.

Limitations:

Should always be done in conjunction with urine amino acid analysis. Detection of some
disorders, e.g. sarcosinemia, requires quantitative analysis.

Methodology:

Paper chromatography.

Additional Information:

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).