Mucopolysaccharidosis Type 7

TEST CODE MG04550
TEST NAME Mucopolysaccharidosis Type 7
RELATED GENE GUSB
SYNONYMOUS GUSB
OMIM 253220
HEREDITY Autosomal Recessive
CLINICAL AREA Mucopolysaccharidosis Type 7 is an Autosomal Recessively inherited disease. Mutations in the GUSB 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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