Frataxin - FXN Sequence Analysis
TEST CODE | MG01070 |
TEST NAME | Frataxin – FXN Sequence Analysis |
RELATED GENE | FXN |
SYNONYMOUS | FXN |
OMIM | 606829 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Friedreich ataxia (FRDA) is an Autosomal Recessively inherited disease. Mutations in the FXN 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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