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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