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Genetic Testing Options for Ataxia

Find answers that can inform your medical care.

Working with your doctor to obtain a diagnosis can be difficult, especially with a rare disease. Medical history, family history, and a neurological evaluation are used to diagnose Ataxia. Various blood tests may also be used to rule out other disorders. Your doctor may recommend genetic testing if a hereditary form of Ataxia is suspected.

How to Get a Genetic Test for Ataxia

Genetic testing is available for many hereditary types of Ataxia. Genetic testing can play an important role in determining options that are available for you. Some research opportunities and clinical trials might require a confirmed diagnosis of Ataxia to participate. 

Genetic testing for the Ataxias is complicated, has different methodologies and needs to be carefully chosen in order to provide accurate information. NAF recommends that anyone having genetic testing work with a certified genetic counselor so that the appropriate genetic test is selected. Read more about that below. General information about genetic counseling can be found at the National Society of Genetic Counselors website.

Why Should I Get Tested?

Dr. Jeremy  Schmahmann’s presentation at our 2018 Annual Ataxia Conference was titled: “Genetic Testing: You need to get tested, here’s why.” This presentation provides information that will help you think through the decision of getting genetic testing.

Dr. Schmahmann refers to this as, “The Need to Know Imperative.” He said this is how you take charge of your own life. You can make informed decisions for your future. It ends the diagnostic journey and puts you in the driver seat. For the dominant forms of Ataxia, the power of gene testing is not only for you, but also for your children.

NAF encourages anyone seeking genetic testing to schedule an appointment with a genetic counselor prior to the testing.

Genetic tests need to be ordered by a physician. Use this resource as a tool to start the conversation about your options. Talk with your doctor to make the right choice for your situation. Need help selecting a doctor? Find an Ataxia clinic or neurologist near you.

NAF's No-Cost Genetic Counseling and Testing Initiative for SCA1, SCA2, and SCA3

NAF is offering free virtual genetic counseling and genetic testing for individuals who are at-risk for SCA1, SCA2, or SCA3.


Genetic testing to confirm a diagnosis of Ataxia can be an incredibly useful tool for persons with a family history of Ataxia. Genetic testing can help inform decisions around family planning, healthcare/lifestyle choices, and professional/financial planning. Genetic testing is also often a requirement for participation in clinical trials for SCAs.

NAF, in partnership with our Drug Development Collaborative, is now offering this program to overcome any obstacles that may prevent individuals from receiving genetic counseling and testing. Eligible participants will receive virtual genetic counseling at no-cost to them. After counseling, if the participant and genetic counselor determine that testing is the right decision, genetic testing for SCA1, SCA2, and SCA3 will be offered at no-cost to the participant.

Who is eligible?

At this time, the Genetic Counseling and Testing Program is available to a person who is at- risk for SCA1, SCA2, and SCA3 because they have a family member with a confirmed genetic diagnosis. Participants must live in the United States, be 18 years of age or older, and become a member of NAF to participate.

How do you get started?

The first step to get started is filling out the Genetic Counseling and Testing Initiative Screening Form. This tool will help you confirm that you are eligible to participate. If you qualify, you will receive instructions on how to enroll in this program through a secure online portal.

If you have any questions about the NAF Counseling and Testing Initiative, please contact Kelsey Trace at

Genetic Testing for SCA27B is Now Available!

SCA27B, one of the newest identified forms of Hereditary Ataxia, is anticipated to be a highly prevalent type of Ataxia. In Late May 2023, the University of Chicago Genetics Lab announced a CLIA-certified genetic test is now available.

To learn more about SCA27B, check out this SCAsource article: To be or SCA27b?

How to get a SCA27B test at the University of Chicago

  1. Visit a representative physician or neurologist to see if a SCA27B genetic test is right for you.
  2. To order the test, your physician will need to create a client account with UChicago.
  3. To request a client account, the provider must email Venessa Gamboa at with the following information:
    1. A contact name and email address.
    2. Name of the institution, address, phone number, and fax number
    3. Ordering physicians name and NPI Number
    4. Billing contact name, email address, and phone number for invoices, associated PO# (if applicable), and address for invoices
    5. Contact for critical results and rejections
  4. Setting up a client account typically takes 3-5 business days. Once a client account is set up, the provider will receive a client account code and will be informed of the next steps to requesting the test and sending the specimen.

Genetic Testing Resources

Genetic Testing Assistance Programs

Little Zebra Fund

The Little Zebra Fund aims to provide universal access to genetic diagnoses for families in the San Francisco Bay Area by eliminating the financial burden of testing.

RARE Concierge Patient Services Program

RARE Concierge Patient Services is a free service for patients, caregivers, and healthcare providers. Their Patient Services Guides help you navigate the complex world of rare diseases – including accessing genetic testing.

Rare Genomes Project

The Rare Genomes Project is a research study focused on patients and families in the USA with rare and genetically undiagnosed conditions. If prior genetic testing has not identified what causes your ataxia, you may be eligible for free genomic sequencing.

CACNA1A Foundation Free Genetic Testing Program

The CACNA1A Foundation, in partnership with Probably Genetic, provides free genetic testing to individuals in the USA with mutations in their CACNA1A gene. This includes people with Spinocerebellar ataxia Type 6 (SCA6), Episodic Ataxia Type 2 (EA2), and other forms of congenital ataxia.

Learn More About Genetic Testing

Genetic Testing Services

All companies listed here are CLIA (Clinical Laboratory Improvement Amendments) certified diagnostic laboratories. This list may not include all available options and is subject to change. Please consult your doctor for options that are available to you. NAF does not endorse any one genetic testing company. NAF does not provide financial assistance for genetic testing and is not liable for results provided.

Patients seeking genetic testing should work with a qualified health care provider to ensure that the appropriate genetic testing is ordered through a qualified laboratory and that the results of the testing are accurately interpreted.

Genome Medical – An American telegenetics care delivery company, offered genetic counselling and testing services

AmbryGen – An American genetic testing laboratory offering several neurological genetic tests.

Athena Diagnostics – An American genetic testing laboratory offering several ataxia-specific genetic tests. 

Blueprint Genetics – A global genetic testing laboratory offering ataxia panel testing.

Fulgent Genetics – An American genetic testing laboratory offering  Ataxia Repeat Expansion Analysis panel tests.

GeneDX – An American genetic testing laboratory offering several neurological genetic tests.

Invitae – A global genetic testing laboratory offering genetic testing for hereditary ataxia.

MNG/LabCorp – An American genetic testing laboratory offering several ataxia-specific genetic tests. 

University of Chicago – An American genetic testing laboratory offering several ataxia-specific genetic tests, including CANVAS and SCA27b.

University of Utah Health – An American genetic testing laboratory offering  genetic testing for SCA1, SCA2, SCA3, SCA6, SCA7 and SCA17.

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