Orotic acid, urine

Alphabetical Test listing

Orotic acid, urine-994

  
Orotic acid, urine
  
994
  
LAB994
  
MSO
  

Elevated levels of orotic acid help lead to positive diagnoses of specific urea cycle disorders, including ornithine transcarbamylase deficiency (OTC), citrullinemia, and arginosuccinic aciduria. Rare hereditary disorders may also be diagnosed via elevation of orotic acid, namely orotic aciduria and uridine monophosphate synthase deficiency, which may be physiologically characterized by megaloblastic anemia and crystalluria. Normal levels of orotic acid assist in the accurate differential diagnoses of patients with elevated plasma ammonia and low plasma citrulline and arginine levels caused by liver infections, carbamoylphosphate synthetase I deficiency (CPSI), or N-acetyl glutamate synthetase deficiency (NAGS).

  
Urine, random
  
  
3.0 mL
  
0.5 mL
Submitting the minimum volume does not allow for repeat testing
  

Freeze

  

Screw cap plastic container (non sterile)

  

Frozen (strict) - 14 days

Ambient - NO

Refrigerated - NO

  
  • Specimen received not frozen
  
LabCorp Burlington (007010): R-NX
  
As needed
  
3 - 5 days
  

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

  

Not established

  
82570
83921
  
Result 17869-9
  
05/24/2019
  
12/30/2019