Icahn School of Medicine at Mount Sinai
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Genetic Testing Lab

Test Catalog Biochemical Genetics Laboratory Methylmalonic Acid

Methylmalonic Acid

Test Description:
Quantitative methylmalonic acid analysis in plasma and urine is used to monitor the treatment of patients with methylmalonic acidemia due to either a defect in methylmalonyl-CoA mutase, or cobalamin (B12) metabolism. Methylmalonic acid levels are also assessed as part of a comprehensive risk assessment for B12 deficiency in adults. Methylmalonic acid analysis is performed by gas chromatography and mass spectrometry using stable isotope dilution method.

Specimen Requirements:
Plasma: 5 ml blood in a sodium heparin (green top) tube. Centrifuge and freeze plasma.
Urine: 2-5 ml urine, random or preferably morning first void, in a clean container without preservatives.

Shipping: Freeze and ship overnight frozen on dry ice.

Turnaround Time: 5 Days

CPT Codes:
Plasma: 80500, 83921, 82542
Urine: 80500, 82570, 83921, 82542

Consent Form: Biochemical Consent [PDF]

Requisition Form: General Test Requisition [PDF]