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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