Epileptic Encephalopathy, Early Infantile, 17
TEST CODE | MG05200 |
TEST NAME | Epileptic Encephalopathy, Early Infantile, 17 |
RELATED GENE | GNAO1 |
SYNONYMOUS | GNAO1 |
OMIM | 615473 |
HEREDITY | Autosomal Dominant |
CLINICAL AREA | Epileptic Encephalopathy 17 is an autosomal dominantly inherited disease. Mutations in the GNAO1 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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