Test Catalog

Test ID: MMAAF    
Methylmalonic Acid (MMA), Amniotic Fluid

Useful For Suggests clinical disorders or settings where the test may be helpful

Specific prenatal diagnostic marker for methylmalonic acidemia

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

A Biochemical Genetics Laboratory genetic counselor or consultant approval is required prior to specimen collection. The prenatal diagnosis is made on a dual, complementary approach involving direct chemical determination of methylmalonic acid (MMA) (at Mayo Clinic Laboratories) in cell-free supernatant of amniotic fluid and molecular analysis for previously identified familial mutations or complementation studies (not currently offered at Mayo Clinic Laboratories) in cultured amniocytes. Both tests are required for a definitive diagnosis. The amniocentesis must be performed between 16 and 19 weeks of gestational age. Previous knowledge of the complementation group (typically labeled as mut0, mut-, CblA, CblB, CblC, etc), associated homocystinuria, responsiveness to vitamin B12 of the affected child, and B12 intake of the mother during the pregnancy (if receiving treatment) are critical to secure an accurate prenatal diagnosis.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

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

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Methylmalonic Acid, AF

Aliases Lists additional common names for a test, as an aid in searching

CblC
Methylmalonic acidemia
MMA, Amniotic Fluid
Methylmalonic aciduria
Cobalamin deficiency