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Test ID: AAUCD    
Amino Acids, Urea Cycle Disorders Panel, Plasma

Useful For Suggests clinical disorders or settings where the test may be helpful

Differential diagnosis and follow-up of patients with urea cycle disorders

Highlights

Urea cycle disorders (UCD) are a group of inherited disorders of nitrogen detoxification that result from defects in any of the enzymes involved in the urea cycle.

 

Disruption of the urea cycle can result in the accumulation of ammonia which is toxic to the nervous system.

 

Plasma amino acid analysis can be used to aid in the diagnosis of a UCD as well as for follow-up of a known patient.

Method Name A short description of the method used to perform the test

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

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Amino Acid, Urea Cycle Panel, P

Aliases Lists additional common names for a test, as an aid in searching

Arginase Deficiency
Arginine
Argininemia
Argininosuccinic Acid
Argininosuccinic Acid Lyase Deficiency
Argininosuccinic Aciduria
Carbamoyl Phosphate Synthetase (CPS) Deficiency
Citrulline
Citrullinemia
CPS (Carbamoyl Phosphate Synthetase)
Glutamine
N-acetyl Glutamate Synthase (NAGS) Deficiency
NAGS (N-acetyl Glutamate Synthetase)
Ornithine
Ornithine Transcarbamylase (OTC) Deficiency
OTC (Ornithine Transcarbamylase)
UCD (Urea Cycle Disorder)
Urea Cycle Disorder (UCD)