Amino Acids (Urine)

Urine

5 mL

3.0 mL

Collection cup

Collect 5-10 milliliters of a random sample. Do not add preservatives. Specimens may be maintained frozen for no more than 14 days prior to processing. Store frozen at –20°Celsius. Preferred volume: 5.0 milliliters, minimum volume: 3.0 milliliters

Freeze as soon as possible after collection; Ship within 24 hours. Ship samples priority overnight on 3-4 lbs of dry ice. Sample must arrive in our lab Monday - Saturday. We do NOT accept Sunday or holiday deliveries.

Room Temperature: Not stable; Refrigerated: not stable; Frozen: 14 days @ -20C; Freeze/Thaw: None

Sample collected more than 14 days prior to receipt; sample received thawed; sample contains preservatives; incorrect sample type

Random Urine amino acid (MET03) is a quantitative assay that is fundamental to the investigation of several inherited metabolic diseases. Urine Amino Acid Testing (MET03) may also be used for assessment of Variants of Uncertain Significance (VUS) identified during genetic testing (e.g. Next Generation Sequencing or Capillary Sequencing Testing).

Amino acids are the basic structural units that comprise proteins and are found throughout the body. Many inborn errors of amino acid metabolism, that affect amino acid transport and/or metabolism have been identified, such as phenylketonuria and tyrosinemia. Amino acid disorders can manifest at any age, but most become evident in infancy or early childhood. These disorders result in the accumulation or the deficiency of 1 or more amino acids in biological fluids, which leads to the clinical signs and symptoms of the particular amino acid disorder. The clinical presentation is dependent upon the specific amino acid disorder. In general, affected patients may experience failure to thrive, neurologic symptoms, digestive problems, dermatologic findings, and physical and cognitive delays. If not diagnosed and treated promptly, amino acid disorders can result in intellectual disability and death. In addition, amino acid analysis may have clinical importance in the evaluation of several acquired conditions including endocrine disorders, liver diseases, muscle diseases, neoplastic diseases, neurological disorders, nutritional disturbances, renal failure, and burns.

General elevations in urine amino acid levels, called aminoaciduria, can be seen in disorders with amino acid transport defects such as lysinuric protein intolerance and Hartnup disease, as well as in conditions with renal tubular dysfunction including Lowe syndrome and Dent disease.

This assay is performed by LabCorp in its Burlington, NC laboratory. It is not eligible for STAT testing.

Liquid chromatography/tandem mass spectrometry (LC/MS-MS)