Isobuturyl Coa Dehydrogenesis Deficiency

TEST CODE MG08280
TEST NAME Isobuturyl Coa Dehydrogenesis Deficiency
RELATED GENE ACAD8
SYNONYMOUS ACAD8
OMIM 604773
HEREDITY Autosomal Recessive
CLINICAL AREA Isobuturyl Coa Dehydrogenesis Deficiency is an Autosomal Recessively inherited disease. Mutations in the ACAD8 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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