Thiamine-Responsive Megalobalstic Anemia
| TEST CODE | MG07510 |
| TEST NAME | Thiamine-Responsive Megalobalstic Anemia |
| RELATED GENE | SLC19A2 |
| SYNONYMOUS | SLC19A2 |
| OMIM | 249270 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Thiamine-Responsive Megalobalstic Anemia Syndrome is an autosomal recessive disease. Mutations in the SLC19A2 gene have been associated with the disease. |
| METHOD | Next Generation Sequencing |
| SAMPLE TYPE | |
| QUANTITY | |
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