Glycogen Storage Disease Type 9B

TEST CODE MG03970
TEST NAME Glycogen Storage Disease Type 9B
RELATED GENE PKHB
SYNONYMOUS PKHB
OMIM 261750
HEREDITY Autosomal Recessive
CLINICAL AREA Glycogen Storage Disease Type 9B is an Autosomal Recessively inherited disease. Mutations in the PKHB 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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