Tyrosinemia Type 1
TEST CODE | MG04790 |
TEST NAME | Tyrosinemia Type 1 |
RELATED GENE | FAH |
SYNONYMOUS | FAH |
OMIM | 276700 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Tyrosinemia Type 1 is an autosomal recessively inherited disease. Mutations in the FAH 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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