Mucopolysaccharidosis Type 3A (MPS3A)

TEST CODE MG02160
TEST NAME Mucopolysaccharidosis Type 3A (MPS3A)
RELATED GENE SGSH
SYNONYMOUS SGSH
OMIM 605270/252900
HEREDITY Autosomal Recessive
CLINICAL AREA Mucopolysaccharidosis Type 3A is an Autosomal Recessively inherited disease. Mutations in the SGSH 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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