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Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine (C5-DC) using dried blood spot specimens
Evaluation of patients with abnormal newborn screens showing elevations of C4-acylcarnitine to aid in the differential diagnosis of short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies
Diagnosis of glutaric acidemia type 1
Aiding in diagnosis of glutaric acidemia type 2
Second-tier newborn screening for follow-up of C4-acylcarnitine and glutarylcarnitine (C5DC) elevations.
Differentiating diagnoses of short-chain Co-A dehydrogenase (SCAD) deficiency, isobutyryl-CoA dehydrogenase (IBDH) deficiency, and ethylmalonic encephalopathy.
Differentiating diagnoses of glutaric acidemia type I (GA-1) and glutaric acidemia type II (GA-2)
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)