Hexanoylglycine and
Phenylpropionylglycine, Urine
Availability: Mon. - Fri., 0800 - 1700
Turnaround Time: 5 - 7 days.
Minimum Volume: 1.0 mL (at least 2.0 mL preferred).
Specimen Handling: Random urine, morning specimen preferred. Freeze without preservative.
Interpretive Reference Range: Normal hexanoylglycine
< 2.3 mg/mg creatinine; normal phenylpropionylglycine <2.5 mg/mg
creatinine.
Use: Diagnosis of medium-chain acyl-CoA dehydrogenase
(MCAD) deficiency.
Methodology: Stable isotope dilution gas chromatography-mass
spectrometry (GC/MS).
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