Fructose 1-6 Biphosphatase Deficiency
TEST CODE | MG09180 |
TEST NAME | Fructose 1-6 Biphosphatase Deficiency |
RELATED GENE | FBP1 |
SYNONYMOUS | FBP1 |
OMIM | 611570 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Fructose 1-6 Biphosphatase Deficiency is an autosomal recessive disease. Mutations in the FBP1 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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