Methyl malonic acidemia

TEST CODE MG01860
TEST NAME Methyl malonic acidemia
RELATED GENE MUT
SYNONYMOUS MUT
OMIM 251000
HEREDITY Autosomal Recessive
CLINICAL AREA Methylmalonic acidemia is an autosomal recessively inherited disease. Mutations in the MUT gene have been associated with the disease.
METHOD Next Generation Sequencing
SAMPLE TYPE Blood with EDTA
QUANTITY 3 mL
TAT 40 DAYS

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