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Description
Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.
External Information
Click here for more information about the Friedreich Atassia, FRDA genetic test.Additional information
Samples | EDTA, LA, TB, VC |
---|---|
Method of testing | Repeats Expansion Test |
Turnaround Time (TAT) | 10 days |
Number of Genes | 1 |
Genes / Chromosomes / SNPs | FXN (GAA repeat expansion) |
External Information | Click here for more information about the Friedreich Atassia, FRDA genetic test. |