Epileptic encephalopathy Type 25
TEST CODE | MG07340 |
TEST NAME | Epileptic encephalopathy Type 25 |
RELATED GENE | SLC13A5 |
SYNONYMOUS | SLC13A5 |
OMIM | 615905 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Developmental and Epileptic Encephalopathy Type 25 is an Autosomal Recessively inherited disease. Mutations in the SLC13A5 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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