MTC1 Deficiency
TEST CODE | MG04480 |
TEST NAME | MTC1 Deficiency |
RELATED GENE | SLC16A1 |
SYNONYMOUS | SLC16A1 |
OMIM | 616095 |
HEREDITY | Autosomal Dominant/Autosomal Recessive |
CLINICAL AREA | Monocarboxylate Transporter Deficiency is a disease inherited as autosomal dominant or autosomal recessive. Mutations in the SLC16A1 gene have been associated with the disease. |
METHOD | Next Generation Sequencing |
SAMPLE TYPE | EDTALI KAN |
QUANTITY | 3 mL |
TAT | 40 DAYS |
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