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.
FRDA Testing Options
|Test Code||Test Name||Turn Around Time|
|D5133||Friedreich Ataxia (FRDA) Diagnostic Testing
|2 weeks||Order Test|
How to Order
1. Complete & print the test requisition.
- All sections are complete
- You have the correct test code
- Your patient has signed an informed consent
2. Collect patient samples.
Obtain a sample for testing from the patient and confirm that the sample is correctly labeled with the patient’s name and date of birth.
Note: if you do not have a PerkinElmer Genomics kit available in your office, please email or call us at 1-866-354-2910.
3. Send a patient sample.
Ship your test kit back using the pre-paid shipping label. Remember to include:
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.