Glycogen Storage Disease Panel (25 Genes)
| TEST CODE | MGT0130 |
| TEST NAME | Glycogen Storage Disease Panel (25 Genes) |
| RELATED GENE | SLC2A2, RBCK1, LAMB2, FBO1, GYS1, GYS2, G6PC, SLC37A4, GAA, AGL, GBE1, PYGM, PYGL, PFKM, PHKA2, PGAM2, LDHA, ALDOA, ENO3, PHKB, PHKA1, PGM1, GYG1, PRKAG2, PHKG2 |
| SYNONYMOUS | SLC2A2, RBCK1, LAMB2, FBO1, GYS1, GYS2, G6PC, SLC37A4, GAA, AGL, GBE1, PYGM, PYGL, PFKM, PHKA2, PGAM2, LDHA, ALDOA, ENO3, PHKB, PHKA1, PGM1, GYG1, PRKAG2, PHKG2 |
| OMIM | |
| HEREDITY | |
| CLINICAL AREA | Glycogen storage disease is a hereditary disease that occurs as a result of the inability to metabolize glycogen to glucose as a result of the deficiency of enzymes that provide glucose metabolism in the liver or the abnormality of transporters. Within the scope of the panel, 25 genes associated with glycogen storage disease are examined. |
| METHOD | Next Generation Sequencing (NGS) |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 mL |
| TAT | 40 DAYS |
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