Progressive External Ophthalmoplegia Type 4
TEST CODE | MG08010 |
TEST NAME | Progressive External Ophthalmoplegia Type 4 |
RELATED GENE | POLG2 |
SYNONYMOUS | POLG2 |
OMIM | 610131 |
HEREDITY | Autosomal Dominant |
CLINICAL AREA | Progressive External Ophthalmoplegia Type 4 is an Autosomal Dominant inherited disease. Mutations in the POLG2 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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