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Test Code MMAU Methylmalonic Acid, Quantitative, Urine

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Reporting Name

Methylmalonic Acid, QN, U

Specimen Type

Urine


Specimen Required


Patient Preparation:

Fasting: 8 hours, required

Supplies: Urine Tubes, 10 mL (T068)

Container/Tube: Plastic, 10-mL urine tube

Specimen Volume: 4 mL

Collection Instructions:

1. After fasting at least 8 hours overnight, patient should void first-morning urine as normal. Do not collect.

2. Patient should continue to fast and then collect the next (second morning) urine voided.


Reject Due To

  All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Specimen Stability Information

Specimen Type Temperature Time
Urine Frozen (preferred) 28 days
  Refrigerated  28 days
  Ambient  21 days

Specimen Minimum Volume

1.2 mL

Day(s) Performed

Monday through Friday

Specimen Retention Time

1 week

Report Available

3 to 5 days

Reference Values

<3.60 mmol/mol creatinine

Useful For

Evaluating children with signs and symptoms of methylmalonic acidemia using urine specimens

 

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

CPT Code Information

83921

LOINC Code Information

Test ID Test Order Name Order LOINC Value
MMAU Methylmalonic Acid, QN, U 25116-5

 

Result ID Test Result Name Result LOINC Value
80290 Methylmalonic Acid, QN, U 25116-5

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 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areas of MMA to d3-MMA determined by LC-MS/MS are used to calculate the concentration of MMA present in the sample.(Unpublished Mayo method)

Disease States

  • Homocystinuria

Forms

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

-Biochemical Genetics Test Request (T798)

-Benign Hematology Test Request (T755)