AMINO ACIDS, QUANTITATIVE, URINE

Code
000.0000
Name
AMINO ACIDS, QUANTITATIVE, URINE
Category
None
Department
Send-Out
Start Date
Expiration Date
Synonyms
CPT Codes
82139
Site
SBMF
Reference Test
47121
ATLAS Test Code

Specimen Information

Type

Urine, random (First morning urine preferred)

Volume

4.0 ml

Transport Info

Frozen

CRITICAL FROZEN. Separate specimens must be submitted when multiple tests are ordered.

Fasting Required?
False
Patient Instructions

Clinical information is needed for appropriate interpretation. Additional required information includes age, gender, diet (eg, TPN therapy), drug therapy, and family history.
Form required: "Patient History for Biochemical Genetics"

Reference Range

See Report

Methodology

Quantitative Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

Clinical Significance

Common indications for urine amino acid testing include clinical situations such as: 1) acute life-threatening episode, 2) failure to thrive, 3) recurrent vomiting, 4) neurological deterioration, 5) hyperammonemia, 6) lethargy, 7) metabolic acidosis, 8) testing or following therapy for a specific inborn error of metabolism (PKU, MSUD, tyrosinemia, etc.), and 9) kidney stones. Listing of clinical information is particularly important for appropriate interpretation.

In patients with inherited metabolic disorders in whom plasma amino acids are elevated, the same amino acids may be increased in the urine. Plasma amino acid analysis is the preferred test to exclude an inborn error or metabolism. Urine amino acid analysis is indicated in the following cases: to exclude defects of renal amino acid transport, such as cystinuria, lysinuric protein intolerance, Hartnup disease, etc.; as a second tier test for selected inborn errors of metabolism such as HHH (hyperammonemia, hyperornithinemia, homocitrullinuria) syndrome; to evaluate renal tubular function; to investigate the cause of kidney stones.

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