Michael J. Palmieri Metabolic Disease Laboratory

Department of Pathology and Laboratory Medicine

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Methylmalonic Acid - Plasma

  • LIS Mnemonic: MA

    Collect

    Green (Sodium heparin)

    Volume Required

    3.0 mL

    Minimum Required

    N/A

    Transport

    On ice

    Stability

    24 hours @ 5°C

    Processing

    Refrigerate if delay in transport is < 24 hours. Spin and freeze plasma if > 24 hours. If sending specimen from outside CHOP, send on dry ice by overnight courier (Mon-Thurs only).

Days Performed

Weekly

Reported

1 week

Reflex Testing

N/A

CPT

83921

Methodology

Isotope Dilution by GC/MS

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Galactosemia Quantitation

Determination of galactose-1-phosphate uridyltransferase (Gal-1-PUT) activity by tandem mass spectrometry is now available at the Palmieri Metabolic Disease Laboratory.