Pyridoxine - Dependent Epilepsy Antiguitin
TEST CODE | MG06420 |
TEST NAME | Pyridoxine – Dependent Epilepsy Antiguitin |
RELATED GENE | ALDH7A1 |
SYNONYMOUS | ALDH7A1 |
OMIM | 266100 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Pyridoxine – Dependent Epilepsy Antiguitin is an Autosomal Recessively inherited disease. Mutations in the ALDH7A1 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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