galactosemia

TEST CODE MG01110
TEST NAME galactosemia
RELATED GENE GALT
SYNONYMOUS GALT
OMIM 230400
HEREDITY Autosomal Recessive
CLINICAL AREA Galactosemia (GALAC1) is an Autosomal Recessively inherited disease. Mutations in the GALT 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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