Congenital Myasthenic Syndrome Type 14
| TEST CODE | MG08240 |
| TEST NAME | Congenital Myasthenic Syndrome Type 14 |
| RELATED GENE | ALG2 |
| SYNONYMOUS | ALG2 |
| OMIM | 616228 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Congenital Myasthenic Syndrome Type 14 is an Autosomal Recessively inherited disease. Mutations in the ALG2 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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