Sialidosis Type 1
TEST CODE | MG02710 |
TEST NAME | Sialidosis Type 1 |
RELATED GENE | NEU1 |
SYNONYMOUS | NEU1 |
OMIM | 256550 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Sialidosis Type 1 is an autosomal recessively inherited disease. Mutations in the NEU1 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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