Galactose Epimerase Deficiency

TEST CODE MG09370
TEST NAME Galactose Epimerase Deficiency
RELATED GENE GALE
SYNONYMOUS GALE
OMIM 606953
HEREDITY Autosomal Recessive
CLINICAL AREA Galactose Epimerase Deficiency is an Autosomal Recessively inherited disease. Mutations in the GALE 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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