Mucopolysaccharidosis Type 3B

TEST CODE MG02180
TEST NAME Mucopolysaccharidosis Type 3B
RELATED GENE NAGLU
SYNONYMOUS NAGLU
OMIM 252920
HEREDITY Autosomal Recessive
CLINICAL AREA Mucopolysaccharidosis Type 3B is an Autosomal Recessively inherited disease. Mutations in the GALNS 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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