CPT Code:

82544

Availability:

Monday - Friday, 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).