Acylglycines, Quantitative
Label Mnemonic: ACYLG
Epic code: LAB2538
Downtime form: A-1a Doctor/Provider Orders - Pathology Core and Specialty Care Nursery
Commercial Mailout Laboratory
6240-8 RCP
356-8593
Specimen(s):
Random Urine
Specimen Instructions:
1. Patient's age and gender are required.

2. Include family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information.
Collection Medium:
Yellow top round bottom tube (no additive)
Minimum:
Preferred Minimum: 10 mL random urine
Absolute Minimum: 4 mL random urine

Pediatric Volume: If insufficient collection volume, submit as much specimen as possible in a single container; the laboratory will determine if volume is sufficient for testing.

1. Collect a random urine specimen.
2. No preservative.
Testing Schedule:
Monday, Wednesday, Friday
Turn Around Time:
5 days upon receipt at reference laboratory (not reported on Saturday or Sunday); 14 days maximum.
Reference Range:
Please refer to the reference laboratory for the appropriate age reference range.
Comments:
Advisory Information
Diagnostic specificity of inborn errors of metabolism via urine acylglycine testing is available only for selected inborn errors of metabolism; it is recommended that urine organic acids (OAU / Organic Acids Screen, Urine) be ordered and assessed simultaneously due to the limited number of metabolites included in this urine acylglycine test.

Useful for Diagnosis and monitoring for patients affected with 1 of the following inborn errors of metabolism:
Fatty Acid Oxidation Disorders
-Glutaric acidemia type II
-Medium-chain 3-ketoacyl-CoA thiolase (MCKAT) deficiency
-Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
-Short chain acyl-CoA dehydrogenase (SCAD) deficiency

Organic Acidurias
-2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (2M3HBD) deficiency
-2-Methylbutyryl-CoA dehydrogenase deficiency
-3-Methylcrotonyl-CoA carboxylase deficiency
-3-Methylglutaconyl-CoA-hydratase deficiency
-Aminoacylase 1 deficiency
-Beta-ketothiolase deficiency
-Ethylmalonic encephalopathy
-Glutaryl-CoA dehydrogenase deficiency
-Isobutyryl-CoA dehydrogenase (IBD) deficiency
-Isovaleryl-CoA dehydrogenase deficiency
-Multiple carboxylase deficiency
-Propionic acidemia
Methodology:
Gas Chromatography-Mass Spectrometry (GC-MS) Stable Isotope Dilution Analysis
CPT Code:
82542