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Do you have a diagnosis of Ataxia but are not sure if there is a genetic cause for your symptoms? Some types of Ataxia have a genetic mutation causing your symptoms. Genetic counselors are medical professionals that help figure out if genetic testing is the best way to find a cause for your symptoms. Your doctors can help you to find a genetic counselor that is local to you. If they are not able to find one, you can go to findageneticcounselor.nsgc.org. This website helps you to find someone that can help you through this process, either in person or through telehealth. There are genetic counselors, who specialize in neurological conditions. These counselors would be the most familiar with the best Ataxia genetic testing.
At the start of your appointment, the genetic counselor will review important history, including your medical and family history. If they believe that testing would be helpful, the genetic counselor will talk to you about testing options. There are several genetic tests, through many companies, that are appropriate for Ataxia patients. A genetic counselor will help you decide what test is the best option for you; based on your symptoms, your family history, and your insurance coverage. They will order this testing and send your sample to the laboratory.
When results are ready, genetic counselors will help you understand what the results mean. If testing is positive, we have found a genetic reason for your Ataxia. Genetic conditions can also affect other family members so the genetic counselor will help you figure out what other family members are at risk. If family members are interested in learning their risk for having Ataxia symptoms in the future, the genetic counselor can order this genetic testing.
Genetic testing is not perfect and does not always find a genetic cause for Ataxia symptoms. Testing for Ataxia patients can be negative or uncertain, and this means that it did not find a cause for your Ataxia. We are still learning about the genetic causes for Ataxia. In the future, we could have better technology or more knowledge about the genetic causes for your symptoms. Because of this, it is recommended that a patient check back with their genetic counselor, every couple of years. If there is additional testing recommended, or new information about a person’s uncertain result, a genetic counselor will be able to review this with you.
Written by Chelsea Chambers, MS CGC
Edited by Celeste Suart, PhD
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