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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