Glycogen Storage Disease Type 4

TEST CODE MG04410
TEST NAME Glycogen Storage Disease Type 4
RELATED GENE GBE1
SYNONYMOUS GBE1
OMIM 232500
HEREDITY Autosomal Recessive
CLINICAL AREA Glycogen Storage Disease Type 4 is an Autosomal Recessively inherited disease. Mutations in the GBE1 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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