Medical Q&A Neurology

Genetic Testing for Huntington Disease

Published 08 June, 2023 | Answered by Dr. Christopher D. Phillips
Genetic Testing for Huntington Disease
Patient Query

Hello Doctor,

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

Certified Medical Response
Dr. Christopher D. Phillips
Dr. Christopher D. Phillips
Neurologist
Now reading the answer...

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

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Dr. Christopher D. Phillips

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