Pyruvate Dehydrogenase Deficiency
| TEST CODE | MG02420 |
| TEST NAME | Pyruvate Dehydrogenase Deficiency |
| RELATED GENE | PDHA1 |
| SYNONYMOUS | PDHA1 |
| OMIM | 312170 |
| HEREDITY | X linked Dominant |
| CLINICAL AREA | Pyruvate Dehydrogenase Deficiency is an X-linked dominantly inherited disease. Mutations in the PDHA1 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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