CPT Code:

82543

Test Includes:

Glutaric acid and 3-hydroxyglutaric acid.

Availability:

Monday - Friday, 0800 - 1700.

Turnaround Time:

2 - 3 days.

Minimum Volume:

2.0 mL.

Specimen Handling:

Cell-free supernatant required. Send frozen. Include two controls of same gestational age (14-16 weeks) with patient sample, all labeled blind (i.e. numbers but no names). Consultation required before sending specimens.

Interpretive Reference Range:

Normal < 300 nanograms/mL.

Use:

Prenatal diagnosis of glutaric acidemia types 1 and 2.

Methodology:

Stable isotope dilution gas chromatography-mass spectrometry (GC/MS).