|Values are valid only on day of printing.|
Biochemical screening of asymptomatic patients affected with 1 of the following inborn errors of metabolism:
-Short chain acyl-CoA dehydrogenase (SCAD) deficiency
-Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
-Medium-chain 3-ketoacyl-CoA thiolase (MCKAT) deficiency
-Glutaric acidemia type II
-2-Methylbutyryl-CoA dehydrogenase deficiency
-Isovaleryl-CoA dehydrogenase deficiency
-Glutaryl-CoA dehydrogenase deficiency
This test provides a qualitative report of abnormal levels of acylglycines in urine, identified via gas chromatography-mass spectrometry.
Diagnostic specificity of inborn errors of metabolism via urine acylglycine testing is useful only for the aforementioned inborn errors of metabolism; it is recommended that urine organic acids (OAU / Organic Acids Screen, Urine) be ordered and run simultaneously due to the limited number of metabolites included in this urine acylglycine test.
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) Stable Isotope Dilution Analysis