Progressive Myoclonic Epilepsy Type 4
TEST CODE | MG08810 |
TEST NAME | Progressive Myoclonic Epilepsy Type 4 |
RELATED GENE | SCARB2 |
SYNONYMOUS | SCARB2 |
OMIM | 602257 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Progressive Myoclonic Epilepsy Type 4 is an Autosomal Recessively inherited disease. Mutations in the SCARB2 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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