Familial Erythrocytosis Type 3 EGLN1 (PHD2)
| TEST CODE | MG07190 |
| TEST NAME | Familial Erythrocytosis Type 3 EGLN1 (PHD2) |
| RELATED GENE | EGLN1 (PHD2) |
| SYNONYMOUS | EGLN1 (PHD2) |
| OMIM | 609820 |
| HEREDITY | Autosomal Dominant |
| CLINICAL AREA | Familial Erythrocytosis Type 3 is an autosomal dominantly inherited disease. Mutations in the EGLN1 (PHD2) 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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