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You may be referred to have genetic testing if you have problems with your balance or coordination, also called “Ataxia”, or have family members who have Ataxia. Genetic testing can be used to tell you the type of Ataxia you have, or to predict if you will develop Ataxia.
Before genetic testing is ordered, there may be several other steps. You will meet with a genetic counselor or other health care professional. These appointments will either be in person, by telephone, or by video visit. They will ask you questions about your health and the health of your family members. They will want to know if there is anyone in your family who has Ataxia or other serious health problems. If anyone in your family has had genetic testing, bring that information with you to the appointment or send it to your doctor before your appointment. A family history will help your health care provider choose the best test for you. Some good tips to prepare for the questions you will be asked can be found in this resource by the National Society of Genetic Counselors. A doctor may also do an exam to learn more about your symptoms or to see if you have any signs of Ataxia. Testing for non-genetic causes of Ataxia may also be recommended if you have symptoms.
You will learn about the different causes of Ataxia and how it can be passed down in a family. There are many different genetic tests for Ataxia, including tests for one gene, multiple genes, or looking at your whole genome:
A consent form will be reviewed with you before you have genetic testing. Information that will be discussed will include the purpose of the test, risks and limitations of the test, and information about your privacy. The possible results of the test will also be discussed with you.
Genetic testing can be done by collecting a blood or saliva sample, or from a cheek swab. This may be collected at the visit or at a later time. You will learn about the cost of genetic testing and if insurance approval will be needed. A plan will also be made on how to discuss your test results with you. Sometimes this is done over the phone and other times this is done at a follow-up appointment.
When the test results are back, you will meet with a doctor such as a neurologist or geneticist to talk about what the results mean for your health and any specific treatment or therapy options that are available. You may also meet with a genetic counselor to talk more about your test results and get information about risk of Ataxia for your children and other family members, as well as family planning options.
Written by Kelly Minks, MS CGC
Edited by Celeste Suart, PhD
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