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 | |
TAT |
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