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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