Sandhoff Disease

TEST CODE MG03900
TEST NAME Sandhoff Disease
RELATED GENE HEXB
SYNONYMOUS HEXB
OMIM 268800
HEREDITY Autosomal Recessive
CLINICAL AREA Sandhoff Disease is an Autosomal Recessively inherited disease. Mutations in the HEXB 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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