GLUT1 Deficiency
TEST CODE | MG03180 |
TEST NAME | GLUT1 Deficiency |
RELATED GENE | SLC2A1 |
SYNONYMOUS | SLC2A1 |
OMIM | 606777 612126 |
HEREDITY | Autosomal Dominant / Autosomal Recessive |
CLINICAL AREA | GLUT1 Deficiency is an autosomal recessive or dominantly inherited disease. Mutations in the SLC2A1 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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