UCSD Biochemical Genetics

A Program in the Division of Genetics, Department of Pediatrics, University of California San Diego
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Test: Methylmalonic Acid
Comments:Quantitation of MMA excretion can be used to follow the clinical status and therapeutic response of patients with methylmalonic acidemia. We use gas chromatography-mass spectrometry for definitive identification and precise quantitation.
Specimen type:Urine, Plasma
Sample Requirements:Urine, 10-20 mL (minimum 5 mL), frozen without preservatives and shipped frozen (packed with dry ice).
Plasma, ≥2 mL (minimum 1.0 mL) from heparinized blood (green top tube) supernatant from clinical centrifugation (within 20 min) promptly frozen and shipped frozen (packed with dry ice).
Turnaround time:Routine: 7-10 working days, Stat: 1-2 days.