Mucopolysaccharidosis Type 9

TEST CODE MG08750
TEST NAME Mucopolysaccharidosis Type 9
RELATED GENE HYAL1
SYNONYMOUS HYAL1
OMIM 607071
HEREDITY Autosomal Recessive
CLINICAL AREA Mucopolysaccharidosis Type 9 is an Autosomal Recessively inherited disease. Mutations in the HYAL1 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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