Pyruvate Carboxylase Deficiency
| TEST CODE | MG08540 |
| TEST NAME | Pyruvate Carboxylase Deficiency |
| RELATED GENE | PC |
| SYNONYMOUS | PC |
| OMIM | 608786 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Pyruvate Carboxylase Deficiency is an Autosomal Recessively inherited disease. Mutations in the PC 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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