Huntingtons Disease: A Comprehensive Guide to Diagnosis

Genetic Testing for Huntington's Disease

Huntington's disease (HD) is a hereditary neurodegenerative disorder caused by a genetic mutation in the huntingtin gene. Genetic testing is the definitive method for diagnosing HD or assessing risk when a family history is present. The test involves examining an individual's DNA to look for the specific genetic change associated with the condition.

The Testing Process

The genetic test for HD typically involves a four-step process:

• Consultation: A healthcare professional reviews the individual's family history and symptoms.
• Consent: The individual provides informed consent for the genetic test.
• Blood draw: A blood sample is collected for analysis.
• Result interpretation: The results of the test are interpreted by a medical geneticist.