Familial Erythrocytosis Type 4 HIF2A (EPAS1)
| TEST CODE | MG07200 |
| TEST NAME | Familial Erythrocytosis Type 4 HIF2A (EPAS1) |
| RELATED GENE | HIF2A (EPAS1) |
| SYNONYMOUS | HIF2A (EPAS1) |
| OMIM | 611783 |
| HEREDITY | Autosomal Dominant |
| CLINICAL AREA | Familial Erythrocytosis Type 4 is an autosomal dominantly inherited disease. Mutations in the HIF2A (EPAS1) 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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