Mucopolysaccharidosis Type 3C

TEST CODE MG04390
TEST NAME Mucopolysaccharidosis Type 3C
RELATED GENE HGSNAT
SYNONYMOUS HGSNAT
OMIM 252930
HEREDITY Autosomal Recessive
CLINICAL AREA Mucopolysaccharidosis Type 3C is an Autosomal Recessively inherited disease. Mutations in the HGSNAT 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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