Methylmalonic Acidemia Type cb1C
TEST CODE | MG07480 |
TEST NAME | Methylmalonic Acidemia Type cb1C |
RELATED GENE | MMACHC |
SYNONYMOUS | MMACHC |
OMIM | 277400 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Methylmalonic Acidemia Type cb1C is an Autosomal Recessively inherited disease. Mutations in the MMACHC 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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