Huntington's Disease Genetic Testing

Huntington's disease genetic testing consists of using a blood sample to analyze DNA for the Huntington disease mutation by counting the number of CAG repeats in the huntingtin gene. Testing may also require a sample of DNA from a closely related affected relative, preferably a parent, for the purpose of confirming the diagnosis of Huntington's disease in the family. In most cases, Huntington's disease genetic testing is preceded by a neurological exam and pretest counseling.

 

Huntington's Disease Genetic Testing: An Overview

The discovery of the Huntington disease (HD) gene has led to the creation of a Huntington's disease genetic test to make or confirm diagnosis of the brain disorder. Huntington's disease is also known as Huntington disease or HD.
 
Huntington's disease genetic testing has also led to screening for the disease. Screening for Huntington's disease consists of administering this genetic test to people who do not have symptoms of the disease. If you think you may be at risk for Huntington's disease, you should talk with your doctor about screening. There are many things to consider before deciding whether or not to be screened.
 
Using a blood sample, the Huntington's disease genetic test analyzes DNA for the Huntington disease mutation by counting the number of CAG repeats in the huntingtin gene. Individuals who do not have HD usually have 28 or fewer repeats; people with Huntington disease usually have 40 or more repeats (see Genetics of Huntington's Disease for more information).
 
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Written by/reviewed by: Arthur Schoenstadt, MD
Last reviewed by: Arthur Schoenstadt, MD