Neurogenetics

The neurogenetics service provides comprehensive neurologic evaluation, genetic counseling, genetic testing, and management for genetic conditions affecting the nervous system.
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Many neurological disorders—including muscular dystrophy, Huntington’s disease, and Charcot-Marie-Tooth disease—are caused by a missing or abnormal gene (gene mutation).  

If you have symptoms of one of these conditions, your provider may recommend genetic testing in addition to other diagnostic tests. Knowing whether you have an abnormal gene can help guide treatment decisions. 

University of Iowa Health Care is home to the largest and most experienced team of neurogenetics experts in the state.  

We offer all the services you may need to:  

  • Confirm whether you have a gene mutation or a specific disorder  

  • Understand (and cope with) your diagnosis 

  • Find the right treatments 

  • Identify family members who are also at risk 

A national leader in neurogenetics

Over the last few decades, researchers—like those from UI Health Care—have identified hundreds of gene mutations that cause neurological disorders. These discoveries have led to breakthrough treatments that help people live longer and feel better. 

Our team frequently leads or takes part in national and international research projects. These include: 

  • Studies that help us understand why two people with the same inherited disorder will have different symptoms (or different rates of disease progression) 
  • Studies that help us identity which symptoms your specific gene mutation is most likely to cause 
  • Clinical trials that offer our patients the most promising new treatments, such as gene replacement therapy, before they’re widely available 

Support and guidance for the whole family

Gene mutations that cause neurological disorders can be inherited, meaning they run in families. If you have a gene mutation, there is a chance your first-degree relatives (parents, siblings, or children) have it, too.

These relatives should consider genetic testing to see if they carry the same gene mutation. A negative result can provide peace of mind. And a positive result may help your loved one get diagnosed early—and treated sooner.

We can coordinate genetic counseling and testing for any of your immediate family members, even if they live outside of Iowa. Our team has helped people who live in nearly every U.S. state and dozens of other countries.

What to expect

Our goal is to help you feel supported and well-informed throughout the genetic counseling and testing process.

Genetic counseling

During your visit, you’ll start by seeing one of our genetic counselors. They will help you understand how genetic tests work and what information they provide—so you can decide whether to get tested.

You’ll discuss several items, including:

Medical history

We’ll review any known neurological disorders (or gene mutations) that run in your family, going back three generations. We’ll also review your current symptoms.

Risk factors:

We’ll help you understand how gene mutations work and your odds of inheriting one (or passing it to your own children).

Testing options:

There are many types of genetic tests. Some examine only a few genes, while others look for abnormalities within a set of hundreds or thousands of genes. Your genetic counselor will help you understand which test might be most suitable based on your symptoms and family history.

Costs:

We can help you determine which tests are covered by your insurance company. We can also help you figure out which tests would require you to pay some or all the cost.

Expectations:

We’ll help you understand what information genetic testing can provide, and what it can’t provide. We’ll make sure you’re aware of how your test results will be used. And we’ll teach you what steps you might need to take if you test positive for a gene mutation.

Genetic testing  

Here’s what you can expect if you choose to move forward with genetic testing:  

  • We’ll take a sample of your blood or saliva and send it to a lab for analysis. 

  • We’ll let you know how long you should expect to wait for your test results. 

  • Once the lab sends us your results, we’ll schedule a time to review them with you. We can do this in person, over the phone, or via a virtual (telemedicine) appointment.  

Results and recommendations 

The same genetic counselor who met with you prior to your test will meet with you to explain your results.  

If you’re found to have a gene mutation, we’ll help you understand how it might affect you and your family members. Items we’ll discuss may include: 

  • Your odds of developing a neurological disorder that’s associated with your gene mutation 

  • What symptoms to watch out for (if you don’t already have any) or how your current symptoms might progress 

  • Whether you might need other diagnostic tests 

  • What treatments you may need, now or in the future 

  • The likelihood of passing the gene mutation to your children 

If you’re officially diagnosed with an inherited neurological disorder, you can count on UI Health Care for complete care and support. We have experience treating even the rarest and most complex conditions that affect the brain and spinal cord.

Neurogenetics conditions treated

  • Neurofibromatosis (NF1 and NF2)
  • Parkinson’s disease
  • Pick’s disease
  • Spinal muscular atrophy (SMA)
  • Spinocerebellar ataxia
  • Tourette syndrome

Neurogenetics tests and treatments

  • Blood tests
  • Clinical trials
  • Gene replacement therapy
  • Genetic counseling
  • Genetic testing
  • Saliva tests

Should your family be tested?

If any of your first-degree relatives are diagnosed with an inherited neurological disorder, the whole family should consider genetic testing.
Call 1-319-356-2572

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