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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