GLUT1 Deficiency Deletion Duplication Analysis
| TEST CODE | MG09550 |
| TEST NAME | GLUT1 Deficiency Deletion Duplication Analysis |
| RELATED GENE | SLC2A1,STXBP1 |
| SYNONYMOUS | SLC2A1,STXBP1 |
| OMIM | 138140 |
| HEREDITY | Autosomal Recessive / Autosomal Dominant |
| CLINICAL AREA | GLUT1 Deficiency Syndrome is an autosomal recessive and dominantly inherited disease. Mutations in the SLC2A1 gene have been associated with the disease. This test screens for deletion/duplication type mutations in the disease-related gene using the MLPA method. |
| METHOD | MLPA |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 mL |
| TAT | 40 DAYS |
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