Thiamine Metabolism Dysfunction Syndrome 2
TEST CODE | MG04980 |
TEST NAME | Thiamine Metabolism Dysfunction Syndrome 2 |
RELATED GENE | SLC19A3 |
SYNONYMOUS | SLC19A3 |
OMIM | 607483 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Thiamine Metabolism Dysfunction Syndrome 2 is an Autosomal Recessively inherited disease. Mutations in the SLC19A3 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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