Glycogen Storage Disease Type 3

TEST CODE MG01170
TEST NAME Glycogen Storage Disease Type 3
RELATED GENE AGL
SYNONYMOUS AGL
OMIM 232400
HEREDITY Autosomal Recessive
CLINICAL AREA Glycogen Storage Disease Type 3 (GSD3) is an Autosomal Recessively inherited disease. Mutations in the AGL 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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