3-Methylcrotonyl CoA Carboxylase 2 Deficiency MCCC2

TEST CODE MG07230
TEST NAME 3-Methylcrotonyl CoA Carboxylase 2 Deficiency MCCC2
RELATED GENE MCCC2
SYNONYMOUS MCCC2
OMIM 210210
HEREDITY Autosomal Recessive
CLINICAL AREA 3-Methylcrotonyl CoA Carboxylase 2 Deficiency is an Autosomal Recessively inherited disease. Mutations in the MCCC2 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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