Fructose 1-6 Biphosphatase Deficiency
| TEST CODE | MG08220 |
| TEST NAME | Fructose 1-6 Biphosphatase Deficiency |
| RELATED GENE | FBP1,ALDOB,TGFBR1 |
| SYNONYMOUS | FBP1,ALDOB,TGFBR1 |
| OMIM | 611570 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Fructose 1-6 Biphosphatase Deficiency is an Autosomal Recessively inherited disease. Mutations in the FBP1 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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