Congenital Myasthenic Syndrome
| TEST CODE | MG03150 |
| TEST NAME | Congenital Myasthenic Syndrome |
| RELATED GENE | CHRNE |
| SYNONYMOUS | CHRNE |
| OMIM | 605809 616324 608931 |
| HEREDITY | Autosomal Dominant / Autosomal Recessive |
| CLINICAL AREA | Congenital Myasthenic Syndrome is an autosomal recessive or dominantly inherited disease. Mutations in the ACHRE 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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