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Test Code MMAS Methylmalonic Acid, Quantitative, Serum

Reporting Name

Methylmalonic Acid, QN, S

Useful For

Evaluating children with signs and symptoms of methylmalonic acidemia

 

Evaluating individuals with signs and symptoms associated with a variety of causes of cobalamin (vitamin B12) deficiency

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Serum


Specimen Required


Container/Tube:

Preferred: Red top

Acceptable: Serum gel

Specimen Volume: 1.5 mL


Specimen Minimum Volume

0.5 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Serum Refrigerated (preferred) 48 days
  Ambient  48 days
  Frozen  48 days

Reference Values

≤0.40 nmol/mL

Day(s) and Time(s) Performed

Monday, Thursday; Continuously until 12 p.m.

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

83921

LOINC Code Information

Test ID Test Order Name Order LOINC Value
MMAS Methylmalonic Acid, QN, S 13964-2

 

Result ID Test Result Name Result LOINC Value
80289 Methylmalonic Acid, QN, S 13964-2

Clinical Reference

1. Fenton WA, Gravel RA, Rosenblatt DS: Disorders of Propionate and Methylmalonate Metabolism. In The Online Metabolic and Molecular Basis of Inherited Disease (OMBBID). Edited by D Valle, AL Beaudet, B Vogelstein, et al. New York, NY, McGraw-Hill, 2014. Accessed 08/17/2017. Available at https://ommbid.mhmedical.com/book.aspx?bookid=2709#225069419

2. Klee GG: Cobalamin and folate evaluation measurement of methylmalonic acid and homocysteine vs vitamin B12 and folate. Clin Chem 2000;46(8):1277-1283

3. Watkins D, Rosenblatt DS: Inherited Disorders of Folate and Cobalamin Transport and Metabolism. In Scriver's The Online Metabolic and Molecular Basis of Inherited Disease (OMBBID). Edited by D Valle, AL Beaudet, B Vogelstein, et al. New York, NY, McGraw-Hill, 2014. Accessed 08/17/2017. Available at https://ommbid.mhmedical.com/book.aspx?bookid=2709#225069419

Method Description

Methylmalonic acid (MMA) is determined by liquid chromatography-tandem mass spectrometry (LC-MS/MS) stable isotope dilution analysis. The specimen is mixed with an internal standard (methyl-d3-malonic acid). MMA and d3-MMA are isolated by solid phase extraction. LC-MS/MS is performed using mobile phases and a short C18 column to separate MMA and d3-MMA from the bulk of the specimen matrix. The MS/MS is operated in the multiple reaction monitoring (MRM) negative mode to follow the precursor to product species transitions. Separation of MMA/d3-MMA from the more physiologically abundant succinic acid is accomplished by the careful selection of MRM transitions and optimization of the LC separation. The ratios of the extracted peak areas of MMA to d3-MMA determined by LC-MS/MS are used to calculate the concentration of MMA present in the sample.(Lacey J, Magera MJ, Matern M: Methylmalonic acid quantitation in serum, urine and amniotic fluid: a method modification with benefits. J Am Soc Mass Spec 2010:21[5], Supplement 1, S44)

Analytic Time

3 days (not reported on Saturday or Sunday)

Reject Due To

Gross hemolysis OK
Gross lipemia OK
Gross icterus OK

Method Name

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

Forms

If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:

-General Request (T239)

-Benign Hematology Test Request (T755)

-Inborn Errors of Metabolism Test Request (T798)