Friedreich’s Ataxia (FA)

Friedreich’s ataxia (FRDA) is the most common hereditary ataxia and it´s an autosomal recessive degenerative disease.The most common DNA abnormality associated with Friedreich’s ataxia (FRDA) is the expansion of a GAA triplet repeat polymorphism localized in the first intron of the gene encoding frataxin (FXN).

5-7 weeks

NGS

EDTA Blood ,DNA

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