Friedreich ataxia
Analysis ID 103
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Friedreich ataxia
OMIM #229300
Clinical information Friedreich ataxia (FRDA1) is an autosomal recessive genetic disorder characterized by a progressive degeneration of nervous system (spinocerebellar tracts, posterior nuclei of the spinal cord, pyramidal tracts, and cerebellum). Approximately 90% probands affected with Friedreich ataxia has cardiomyopathy (usually hypertrophic, rarely dilated). The disease is caused by homozygous mutation in the first intron of the FXN gene. In 98% cases it is a dynamic mutation, which leads to an expansion of the trinucleotide GAA repeat in inton 1. The remainder 2% cases carry a point mutation at a second allele. Abnormal allele has from 66 to 1 700 trinucleotide repeats. Most patients develop the disease before the age of 20 years, usually between 8 and 15 years. Rarely, symptoms start in the childhood or after 25 years of age.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes FXN
Analysis description Analysis of a dynamic mutation in the FXN gene
Analysis indication Symptoms of Friedreich ataxia
Analysis time To be adjusted individually
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders