Mucopolysaccharidosis Type 4

TEST CODE MG02170
TEST NAME Mucopolysaccharidosis Type 4
RELATED GENE GALNS
SYNONYMOUS GALNS
OMIM 612222/253000
HEREDITY Autosomal Recessive
CLINICAL AREA Mucopolysaccharidosis Type 4A 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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