Medium Chain ACYL - COA Dehydrogenase Deficiency

TEST CODE MG03620
TEST NAME Medium Chain ACYL – COA Dehydrogenase Deficiency
RELATED GENE ACADM
SYNONYMOUS ACADM
OMIM 201450
HEREDITY Autosomal Recessive
CLINICAL AREA Medium Chain ACYL – COA Dehydrogenase Deficiency is an Autosomal Recessively inherited disease. Mutations in the ACADM 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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