Genetic testing is essential in the diagnosis of Friedreich ataxia

Sam, age 33
 |  
Diagnosed at age 15

Patients featured are paid spokespersons for Biogen.

Genetic testing not only confirms a diagnosis, it can also inform prognosis1

A genetic test that includes a GAA triplet-repeat expansion analysis is the only way to confirm a Friedreich ataxia (FA) diagnosis.2 Single point mutation testing for heterozygous patients with one GAA repeat expansion can help determine whether a patient has FA or is a carrier of the gene variant.3

It's important to know that not all genetic tests will identify the GAA triplet-repeat expansion. Whole-exome or next-generation sequencing does not identify the GAA repeat and may return a normal result in patients with FA.4

Polymerase chain reaction (PCR)–based tests may not detect highly expanded repeat sizes, so a more detailed follow-up like a Southern blot assay or triplet repeat primed PCR test may be needed to inform prognosis.2

Explore FA pathology
A greater number of GAA triplet repeats typically means1,5:
Earlier disease onset
More severe symptoms
More rapid progression

No-cost genetic testing may be available

Eligible patients who are suspected of having FA may qualify for no-cost genetic testing through FA Identified, a program sponsored by Biogen and offered through PreventionGenetics. Your patients may be eligible if they meet the following criteria:

  • Are suspected of having or have a clinical diagnosis of FA
  • Are 16 years of age or older
  • Reside in the United States or Puerto Rico
The FA Identified program includes:
 
  • Multiple testing and screening options
  • Easy ordering of kits and DNA collection methods
  • Results within ~3 weeks of testing, with expedited testing available

Specimen collection kits are provided along with a test requisition form. Simply complete the form and send it along with the collected specimen to PreventionGenetics for testing.

While Biogen provides financial support for these programs, at no time does Biogen receive identifiable patient information.

Learn more about genetic testing for FA
Visit FA Identified

Genetic confirmation can help a patient’s family know whether they are at risk

Because genetic testing may have implications for siblings, parents, and children of the patient, both patients and their family members should be encouraged to participate in genetic counseling.

If your patient and their family are interested in a genetic counselor, genetic counselors in your area can be found by visiting the website of the National Society of Genetic Counselors at FindAGeneticCounselor.org.

Patient in wheelchair deboarding a van
Patient in wheelchair deboarding a van

Jean, age 62
Diagnosed at age 19

Find out how FA is managed after diagnosis is confirmed

Learn more

References

1. Parkinson MH, Boesch S, Nachbauer W, Mariotti C, Giunti P. Clinical features of Friedreich’s ataxia: classical and atypical phenotypes. J Neurochem. 2013;126(suppl 1):103-117. 2. Wallace SE, Bird TD. Molecular genetic testing for hereditary ataxia: what every neurologist should know. Neurol Clin Pract. 2018;8(1):27-32. 3. Galea CA, Huq A, Lockhart PJ, et al. Compound heterozygous FXN mutations and clinical outcome in Friedreich ataxia. Ann Neurol. 2016;79(3):485-495. 4. Lynch DR, Schadt K, Kichula E, McCormack S, Lin KY. Friedreich ataxia: multidisciplinary clinical care. J Multidiscip Healthc. 2021;14:1645-1658. 5. Bürk K. Friedreich ataxia: current status and future prospects. Cerebellum Ataxias. 2017;4(4).