Mapple Urine Syrup (MSUD) Type 1A
| TEST CODE | MG01770 |
| TEST NAME | Mapple Urine Syrup (MSUD) Type 1A |
| RELATED GENE | BCKDHA |
| SYNONYMOUS | BCKDHA |
| OMIM | 248600/608348 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Maple syrup urine disease (MSUD) is an Autosomal Recessively inherited disease. Mutations in the BCKDHA 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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