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Methylmalonic acid (blood)

Category Biochemistry
Test background
Clinicial Indications

Evaluating patients with methylmalonic aciduria or a cobalamin defect.

Reference range

See report

Sample & container required Heparin (green top) on ice rush to laboratory
Sample volume 0.5 mL
Turnaround time Up to 6 weeks
Notes

Not currently performed in house; this is a referred test.
It would rarely be necessary to perform this test in the initial investigation of an inherited metabolic disease. A urine organic acid profile would be the normal starting point.