Krabbe Disease

TEST CODE MG03850
TEST NAME Krabbe Disease
RELATED GENE GALC
SYNONYMOUS GALC
OMIM 245200
HEREDITY Autosomal Recessive
CLINICAL AREA Krabbe Disease is an Autosomal Recessively inherited disease. Mutations in the GALC 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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