FA Dtekt™ Kit v2.2

Friedreich’s ataxia (FRDA) is an autosomal recessive genetic disease, and the age of onset depends on the type of mutation. As the number of GAA repeats (expansions) increases, the severity of the disease escalates. Typically, onset occurs before the age of 25 (mean age of onset: 10-15 years). FRDA is usually associated with progressive ataxia, muscle weakness, particularly in the lower limbs, muscle spasticity, scoliosis, bladder dysfunction, absence of lower-limb reflexes, and loss of position and vibration sense. Almost two-thirds of individuals with FRDA have cardiomyopathy, up to 30% have diabetes, and approximately 25% present with an “atypical” onset, occurring later or retaining tendon reflexes.

The KBC FA DTekt™ v2.2 kit is performed using the PCR method based on fluorescence, which is used for the rapid detection of affected individuals, carriers, and unaffected individuals with respect to Friedreich’s ataxia. The trinucleotide GAA repeats in intron 1 of the FXN gene are normally comprised of 5 to 37 base pairs. These trinucleotide repeats are increased in affected individuals and are considered as dynamic mutations. In almost 96% of patients, the increase in GAA repeats ranges from 44 to 1700 repeats (the most common repeat range being between 600 and 900).