U.S. flag

An official website of the United States government

GTR Home > Tests > Ataxia Repeat Expansion Panel


Test name


Ataxia Repeat Expansion Panel

Purpose of the test


This is a clinical test intended for Help: Monitoring, Pre-symptomatic, Screening, Diagnosis, Risk Assessment



Loading data ......

Click Indication tab for more information.

How to order


•All samples should be shipped via overnight delivery at room temperature. •No weekend or holiday deliveries. •Label each specimen with the patient’s name, date of birth and date sample collected. •Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL Help: http://dnatesting.uchicago.edu/submitting-sample

Specimen source

Frozen tissue
Chorionic villi
Cell culture
Cord blood
Amniotic fluid
Fetal blood
Buccal swab
Fresh tissue
Product of conception (POC)
Peripheral (whole) blood


Molecular Genetics
XMutation scanning of select exons
Trinucleotide repeat by PCR or Southern Blot

Summary of what is tested

Loading data ......

Click Methodology tab for more information.

Clinical utility


Establish or confirm diagnosis

  • 1. Mariotti C, Fancellu R, Di Donato S. An overview of the patient with ataxia. J Neurol 2005: 252: 511-518. 2. Németh AH, Kwasniewska AC, Lise S et al. Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model. Brain 2013. 3. Brusse E, Maat-Kievit JA, van Swieten JC. Diagnosis and management of early- and late-onset cerebellar ataxia. Clin Genet 2007: 71: 12-24. 4. Warner JP, Barron LH, Goudie D et al. A general method for the detection of large CAG repeat expansions by fluorescent PCR. J Med Genet 1996: 33: 1022-1026.

Clinical validity


Not provided

Test services

  • Custom Deletion/Duplication Testing
  • Uniparental Disomy (UPD) Testing
  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.