The Adellgene® Friedreich Ataxia assay detects the number of repetitions of GAA in the first intron of the gene encoding frataxin (FXN). The technology is based on the polymerase chain reaction (PCR) amplification of genomic DNA, ex-tracted and purified from peripheral blood, followed by fluorescence analysis of the size of the PCR fragments obtained by a genetic analyzer and conversion of that size into the relevant number of GAA repeats.
Friedrich ataxia is named after the Nikolaus Friedreich who was first to document and describe the condition. This inherited genetic disorder causes significant issue in expression of the mitochondrial protein frataxin, reducing cellular metabolism efficiency and inducing frequent fatigue. Additionally degeneration of the spinal cord and nervous tissue eventually lead to loss of myelin sheathing and reduced size of the spinal cord (ataxia). The disease is progressive and over time may lead to additional conditions such as diabetes, scoliosis, or heart 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). About 98% of individuals with FRDA are homozygous for this expansion.
This assay is available in 16 tests size.