Amino Acid - Metabolic Screen, Urine

OHSU Service Code:

067-6301

Lab Section:

Biochemical Genetics

Synonyms:

Cystine Screen, Urine; Homocystine Screen, Urine; Metabolic Screen - Amino Acids, Urine; Mucopolysaccharide Screen, Urine; Tyrosine Metabolites, Qualitative, Urine

Specimen
Requirements:

8 mL random urine (first morning sample preferred but not essential) or aliquot of 24 hr collection. Refrigerate and deliver within 4 hr or freeze and transport frozen. List clinical indication, and all medications from previous 48 hr. For requisition slips.

Pediatric Specimen
Requirements:

5 mL urine in a urine sample cup

Comments:

NOTE: This is the preferred test for initial screening for inborn errors of metabolism since it covers a WIDE range of abnormalities.

Indication/description: Includes Ketoacids, Ketones, Sulfur Aminoacids, Mucopolysaccharides, Urobilinogen, Porphobilinogen, Bilirubin, Glucose, Protein and Reducing Substances.