Glycogen Storage Disease Type 1

TEST CODE MG01160
TEST NAME Glycogen Storage Disease Type 1
RELATED GENE G6PC
SYNONYMOUS G6PC
OMIM 232200
HEREDITY Autosomal Recessive
CLINICAL AREA Glycogen Storage Disease Type 1 (GSD1A) is an Autosomal Recessively inherited disease. Mutations in the G6PC1 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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