Sandhoff Disease
TEST CODE | MG03900 |
TEST NAME | Sandhoff Disease |
RELATED GENE | HEXB |
SYNONYMOUS | HEXB |
OMIM | 268800 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Sandhoff Disease is an Autosomal Recessively inherited disease. Mutations in the HEXB 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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