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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