Multigene panel provides efficient ataxia diagnosis

Answers from the Lab

Hereditary ataxia is complex, with significant clinical overlap among multiple subtypes. In this test-specific episode of the "Answers From the Lab" podcast, Angela Pickart, M.S., CGC, and Emily Lauer, M.S., CGC, explain how Mayo Clinic Laboratories' ATAXP panel provides cost-effective molecular diagnosis to guide management of this movement disorder.

"This panel uses next-generation sequencing to detect variants in 198 genes, which have been carefully vetted by experts," Lauer says. "Ensuring that the genes on a large testing panel are truly associated with disease assists in minimizing detection of variants of uncertain significance."

The panel can be especially helpful if an individual's clinical and family history isn't consistent with spinocerebellar ataxia or Friedreich ataxia. Mayo Clinic Laboratories also offers testing that targets those forms of ataxia.

"Understanding the underlying cause of an individual's genetic condition can help with prognosis, clinical management and family screening," Pickart says. "Once nongenetic etiologies have been excluded, it is reasonable to consider genetic testing for any individual to assess for hereditary ataxia."

Listen to learn more about Mayo Clinic Laboratories' hereditary ataxia panel.

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Useful information

Establishing a molecular diagnosis for patients with ataxia.

Identifying variants within genes known to be associated with ataxia, allowing for predictive testing of at-risk family members.

Specimen requirements

Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood

Container/Tube: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

  1. Invert several times to mix blood.
  2. Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred)/Refrigerated

Performance information

  • Analytic time: 28 - 42 days
  • Day(s) and time(s) performed: Varies

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Barbara J. Toman

Barbara J. Toman is a Senior Communications Specialist at Mayo Clinic Laboratories. She is also the science writer for Mayo’s Neurosciences Update newsletter, which helps referring physicians to stay informed about Mayo’s treatment and research. Barbara has worked at Mayo Clinic since 2007. She enjoys international travel and cooking.