Myotonia Congenita
| TEST CODE | MG03090 |
| TEST NAME | Myotonia Congenita |
| RELATED GENE | CLCN1 |
| SYNONYMOUS | CLCN1 |
| OMIM | 160800 255700 |
| HEREDITY | Autosomal Dominant / Autosomal Recessive |
| CLINICAL AREA | Myotonia Congenita is an autosomal recessive or dominantly inherited disease. Mutations in the CLCN1 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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