Maple Urine Syrup
TEST CODE | MG04850 |
TEST NAME | Maple Urine Syrup |
RELATED GENE | DBT |
SYNONYMOUS | DBT |
OMIM | 248600 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Maple Urine Syrup is an Autosomal Recessively inherited disease. Mutations in the DBT 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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