Mucopolysaccharidosis Type 1

TEST CODE MG02140
TEST NAME Mucopolysaccharidosis Type 1
RELATED GENE IDUA
SYNONYMOUS IDUA
OMIM 252800
HEREDITY Autosomal Recessive
CLINICAL AREA Mucopolysaccharidosis Type 1 is an Autosomal Recessively inherited disease. Mutations in the IDUA 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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