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ACYLG-M
ACYLGLYCINES, QUANTITATIVE, RANDOM URINE

Test Code ACYLG-M 
Test ACYLGLYCINES, QUANTITATIVE, RANDOM URINE 
Methodology Stabile Isotope Dilution/Gas Chromatography-Mass Spectrometry (GC/MS) 
Description The acylglycine test is aimed at the biochemical diagnosis of selected inborn errors of metabolism by quantitative determination of target urinary metabolites that are present in amounts below the detection limit of routine organic acid analysis. Inborn errors of metabolism detected by the acylglycine method include: short-chain acyl-CoA dehydrogenase (SCAD) deficiency, polymorphisms of the SCAD gene, medium-chain acyl-CoA dehydrogenase deficiency, medium-chain 3-ketoacyl-CoA thiolase deficiency, electron transfer flavoprotein (ETF) deficiency (including prenatal diagnosis), ETF:ubiquinone oxidoreductase (ETF-QO) deficiency (including prenatal diagnosis), riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency, ethylmalonic encephalopathy, 2-methylbutyryl-CoA dehydrogenase deficiency (including prenatal diagnosis), isovaleryl-CoA dehydrogenase deficiency (prenatal diagnosis), and glutaryl-CoA dehydrogenase deficiency (prenatal diagnosis). 
Specimen 5.0 mL (minimum 3.0 mL) from a random urine collection. Send specimen FROZEN in plastic container on dry ice. 
Reference Values See "Acylglycines, Quantitative, Urine, Control Values." 
Analytic Time 2 Days 
Day(s) Test Set Up Monday, Thursday 
CPT Code(s) 82544  

Special Instructions