Oculopharyngeal Muscular Dystrophy
| TEST CODE | MG02310 |
| TEST NAME | Oculopharyngeal Muscular Dystrophy |
| RELATED GENE | PABPN1 |
| SYNONYMOUS | PABPN1 |
| OMIM | 164300 |
| HEREDITY | Autosomal Dominant |
| CLINICAL AREA | Oculopharyngeal Muscular Dystrophy is an autosomal dominantly inherited disease. Mutations in the PABPN1 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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