Amino acid profile, quantitative, urine-994

Test info

  
Amino acid profile, quantitative, urine
  
994
  
LAB994
  
MSO
  

Diagnosis and monitoring of inherited aminoacidurias, organic acidurias, and urea cycle defects. May be used as a follow-up confirmatory test to some abnormal newborn screen results.

  

False-negative results can occur, especially when a patient is affected with a mild or intermittent variant of a disorder or when a clinical condition or dietary treatment causes secondary changes to the profile. Results of amino acid profiling should be interpreted in the context of clinical presentation as well as other laboratory tests.

Specimen

  
Urine, random
  
  
5 mL
  
0.2 mL
  

Freeze

  

Screw cap plastic container (sterile)

  

Frozen (strict) - 14 days

Refrigerated - NO

Ambient - NO

  
  • Ambient temperature specimens
  • Refrigerated specimens
  • Thawed specimens

Performance

  
LabCorp Burlington (700140): R-NX
  
Mo - Fr
  
3 - 7 days
  

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

Clinical and Interpretive info

  

In most, but not all, cases where an amino acid is elevated in blood, it will also be elevated in urine. Some disorders, primarily those involving defective renal transport, will only manifest elevated amino acids in urine. In general, urinary amino acid levels are more variable than plasma levels. For this reason, screening for aminoacidopathies in urine alone is discouraged unless a disorder is suspected that predominantly manifests abnormalities in urine (eg, cystinuria, renal Fanconi syndrome).

Billing

  
82139
  
Result 28595-7

Tracking

  
06/28/2019
  
02/08/2021
  
02/08/2021