Pyridoxamine 5 Phosphate Oxidase Deficiency
| TEST CODE | MG04140 |
| TEST NAME | Pyridoxamine 5 Phosphate Oxidase Deficiency |
| RELATED GENE | PNPO |
| SYNONYMOUS | PNPO |
| OMIM | 610090 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Pyridoxamine 5′-Phosphate Oxidase Deficiency is an Autosomal Recessively inherited disease. Mutations in the PNPO 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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