About Friedreich Ataxia

Friedreich ataxia (FRDA) is the most common hereditary ataxia disorder, with an estimated prevalence of 1 in 50,000. An autosomal recessive neurodegenerative disorder with a typical age of onset around 5-15 years, FRDA is characterized by progressive gait and limb ataxia, dysarthria, lower-limb areflexia, Babinski sign, loss of position and vibration senses. Cardiomyopathy and diabetes mellitus may also be observed.

Approximately 96% of individuals with FRDA have an abnormally expanded GAA repeat in intron 1 of FXN gene on both alleles (homozygous GAA repeat expansion). The remaining individuals with FRDA are compound heterozygotes for an abnormally expanded GAA repeat in the disease-causing range on one allele and another intragenic pathogenic variant on the other allele. Standard alleles in the FXN gene contain 5 to 60 repeats, while disease-causing alleles can range from 66 to approximately 1300 repeats.

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Contact Laboratory for information on Friedreich Ataxia (FRDA) Diagnostic Testing

FAQs

The FRDA repeat expansion test has an average turn-around-time of 2 weeks.

For pricing, please submit a request to PerkinElmer Genomics, or email PerkinElmer Genomics, or call us at 1-866-354-2910.

PerkinElmer Genomics accepts multiple sample types including Saliva Swabs, Dried Blood Spots, Whole Blood, and Genomic DNA.

PerkinElmer Genomics follows the published ACMG guidelines when classifying identified variants.

If you have additional questions, please feel free to email or call us at 1-866-354-2910.