Hyperekplexia 1
| TEST CODE | MG08330 |
| TEST NAME | Hyperekplexia 1 |
| RELATED GENE | GLRA1,GLRB,SLC6A5 |
| SYNONYMOUS | GLRA1,GLRB,SLC6A5 |
| OMIM | 138491 |
| HEREDITY | Autosomal Dominant/Autosomal Recessive |
| CLINICAL AREA | Hyperekplexia is an autosomal recessive and dominantly inherited disease. Mutations in the GLRA1 gene have been associated with the disease. This test screens for deletion/duplication type mutations in the disease-related gene using the MLPA method. |
| METHOD | MLPA |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 ml |
| TAT | 45 DAYS |
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