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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Huntington disease


Other Names for this Disease
  • HD
  • Huntington chorea
  • Huntington's chorea
  • Huntington's disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

What tests will my doctor order to confirm if I have Huntington disease?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How is Huntington disease diagnosed?

A diagnosis of Huntington disease is typically suspected in people with characteristic signs and symptoms of the condition and a family history consistent with autosomal dominant inheritance. The diagnosis can then be confirmed with genetic testing that identifies a specific type of change (mutation) in the HTT gene.[1]
Last updated: 7/8/2015

What tests will my doctor order to confirm that I have Huntington disease?

Genetic testing for a change (mutation) in the HTT gene can be ordered to confirm a diagnosis of Huntington disease.[1]

It is important to bear in mind that, even though a person may be aware that he or she has some of the symptoms associated with Huntington disease, hearing this suspicion confirmed can often have a significant psychological effect. For this reason, you are strongly encouraged to bring a support person with you to all testing sessions. You may also wish to have your testing done at an Huntington Disease Society of America (HDSA) Center of Excellence where there are resources available to guide you through the testing process. To locate a Center of Excellence in your area, please click here.
Last updated: 7/8/2015

References
Other Names for this Disease
  • HD
  • Huntington chorea
  • Huntington's chorea
  • Huntington's disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.