Liquid Chromatography-Tandem Mass Spectometry (LC-MS/MS)
Used for evaluating patients displaying symptoms of methylmalonic acidemia and related disorders. And used for evaluating patients displaying symptoms of vitamin B12 deficiency (cobalamin deficiency).
Less than or equal to 0.40 umol/L.
5 - 10 days
- Methylmalonate, Serum
- MMA, Serum
- METHYLMALONIC ACID, SERUM
STAT analysis must be approved by the Pediatric Geneticist on Call.
Collect blood in a red top or SST tube. Centrifuge, aliquot serum into a plastic vial and refrigerate. Grossly hemolytic or grossly lipemic specimens are unacceptable. Specimens can be stored or shipped at ambient temperature for a maximum of 3 days. Samples can usually be shipped at ambient temperature; however, during high summer temperatures, please ship the sample with ice packs.
Elevated methylmalonic acid levels >5 umol/L will be reported to the MMGL Biochemical Genetics Lab director for evaluation of a possible metabolic disorder. Test may include medical geneticist interpretation of results at an additional charge. By ordering this test, the clinician acknowledges that a physician interpretation will be performed and billed as a separate additional charge if indicated.