Genetic Testing for Huntington Disease

Published on, 08 June, 2023. Answered by Dr. Christopher D. Phillips and Verified by Dr.Galen Team

Patient Question

Hello Doctor,

Can genetic testing be utilized to detect the gene mutation associated with Huntington disease in an individual?

Hello,

Thank you for reaching out to Dr. Galen. Please find the below response to your query.

Yes, genetic testing can be used to identify the presence of the gene mutation responsible for Huntington disease. Specifically, DNA testing is conducted to detect the presence of CAG repeats, which are characteristic of the disease. This testing allows individuals to determine if they carry the mutation and assess their risk of developing Huntington disease.

Thanks