Glycogen Storage Disease Type 0B

TEST CODE MG09390
TEST NAME Glycogen Storage Disease Type 0B
RELATED GENE GYS1
SYNONYMOUS GYS1
OMIM 138570
HEREDITY Autosomal Recessive
CLINICAL AREA Glycogen Storage Disease Type 0B is an Autosomal Recessively inherited disease. Mutations in the GYS1 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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