Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
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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
-Ethylmalonic encephalopathy
-2-Methylbutyryl-CoA dehydrogenase deficiency
-Isovaleryl-CoA dehydrogenase deficiency
-Glutaryl-CoA dehydrogenase deficiency
This test provides a quantitative report of abnormal levels of acylglycines in urine, identified via gas chromatography-mass spectrometry.
The following algorithms are available in Special Instructions:
Gas Chromatography-Mass Spectrometry (GC-MS) Stable Isotope Dilution Analysis