Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
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Diagnosis of inborn errors of metabolism
The urine organic acids (OAU) test provides a qualitative report of abnormal levels of organic acids identified via gas chromatography-mass spectrometry.
Diagnostic specificity of inborn errors of metabolism via urine organic acids analysis is variable due to factors such as specimen collection when the patient is asymptomatic versus acutely ill, taking dietary supplements, or anabolic versus catabolic status of the patient.
The following algorithms are available in Special Instructions:
-Porphyria (Acute) Testing Algorithm
-Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm
Gas Chromatography-Mass Spectrometry (GC-MS)