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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