Porphyria Acute Intermittent
| TEST CODE | MG07990 |
| TEST NAME | Porphyria Acute Intermittent |
| RELATED GENE | HMBS |
| SYNONYMOUS | HMBS |
| OMIM | 176000 |
| HEREDITY | Autosomal Dominant |
| CLINICAL AREA | Porphyria is an acute intermittent autosomal dominant inherited disease. Mutations in the HMBS 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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