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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 is variable due to factors such as specimen collection when patient is asymptomatic versus acutely ill, taking dietary supplements, or anabolic versus catabolic.
The following algorithms are available in Special Instructions:
-Newborn Screening Follow-up for Elevations of C8, C6, and C10 Acylcarnitines (also applies to any plasma C8, C6, and C10 acylcarnitine elevations)
-Newborn Screening Follow-up for Isolated C4 Acylcarnitine Elevations (also applies to any plasma C4 acylcarnitine elevation)
-Newborn Screening Follow-up for Isolated C5 Acylcarnitine Elevations (also applies to any plasma C5 acylcarnitine elevation)
Gas Chromatography-Mass Spectrometry (GC-MS)