Glutaric acid and 3-hydroxyglutaric acid.
Monday - Friday, 0800 - 1700.
2 - 3 days.
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.
Prenatal diagnosis of glutaric acidemia types 1 and 2.
Stable isotope dilution gas chromatography-mass spectrometry (GC/MS).