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BDR announces its new product for in vitro diagnosis of Friedreich´s Ataxia

BDR announces its new product for in vitro diagnosis of Friedreich´s Ataxia

Posted on 7 November, 2016 by in Products with no comments

Blackhills Diagnostic Resources offers its new product Adellgene® Friedreich´s Ataxia, expanding its catalog for fragment analysis products.

Friedreich’s ataxia is the most common hereditary ataxia. It is an autosomal recessive degenerative disease characterized by a progressive gait and limb ataxia, a lack of tendon reflexes in the legs, loss of position sense, dysarthria, and pyramidal weakness of the legs.

The cause of this disease is an abnormality of the DNA consisting of a repeat expansion GAA triplet in the gene encoding Frataxin. Thus, people who are between 5-30 repeats are healthy individuals, those between 30-49 repeats are patients with mild symptoms and those between 50 to 1,300 repeats are patients with severe symptoms.

The Adellgene® Friedreich Ataxia product is an in vitro diagnostic kit that detects the number of repeats of GAA triplet. The technology is based on amplification of genomic DNA from peripheral blood samples using polymerase chain reaction (PCR), followed by a fluorescent size analysis of PCR fragments obtained by genetic analyzer and converting said size in the number of repetitions of GAA.

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