Acylglycines, Quantitative
| Label Mnemonic: | ACYLG |
| Epic Lab Code: | LAB2538 |
| Downtime Form: | A-1a Miscellaneous Request |
Commercial Mail-out Laboratory
5231 RCP
356-8593
5231 RCP
356-8593
Specimen(s):
Random Urine
Specimen
Instructions:
1. Patient's age is required.
2. Include family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information.
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
Absolute Minimum: 4 mL random urine
Turn Around
Time:
5 days upon receipt at reference laboratory (not reported on Saturday
or Sunday); 14 days maximum.
Reference Range:
Control Values
Results Expressed as mg/g Creatinine
Range
Ethylmalonic Acid 0.5-20.2
2-Methylsuccinic Acid 0.4-13.8
Glutaric Acid 0.6-15.2
Isobutyrylglycine 0.0-11.0
n-Butyrylglycine 0.1- 2.1
2-Methylbutyrylglycine 0.3- 7.5
Isovalerylglycine 0.3-14.3
n-Hexanoylglycine 0.2- 1.9
n-Octanoylglycine 0.1- 2.1
3-Phenylpropionylglycine 0.0- 1.1
Suberylglycine 0.0-11.0
trans-Cinnamoylglycine 0.2-14.7
Dodecanedioic Acid (12 DCA) 0.0- 1.1
Tetradecanedioic Acid (14 DCA) 0.0- 1.0
Hexadecanedioic Acid (16 DCA) 0.0- 1.0
Interpretive Data:
Useful for 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
-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
Comments:
Freeze urine as soon as possible; this task is performed by Specimen
Control in Pathology. Avoid dilute urine when possible. Clinical
information is needed for appropriate interpretation. Additional
required information includes age, gender, diet (e.g., TPN therapy),
drug therapy, and family history.
Methodology:
Gas Chromatography-Mass Spectrometry (GC-MS) Stable Isotope Dilution
Analysis
CPT Code:
82542