Clinical Use of Testing

For any hereditary condition, the requirement for testing varies depending on the individual being tested, their family history-based risk prediction and various psychosocial aspects involved in undergoing a genetic testing irrespective of the result. There are specific set of requirements for individuals falling under each of the above-mentioned categories. Below is the summary of what you need to remember prior to thinking about genetic testing, please click on the below links to know more based on your current requirements. 

Diagnostic or Confirmatory Testing:

Diagnostic testing for Huntington’s disease is essential for individuals displaying typical symptoms following neurological assessment, allowing for definitive diagnosis and tailored management, though it’s important to anticipate the possibility of shared symptoms with other conditions.

Predictive Testing or Presymptomatic Testing

Predictive testing or presymptomatic testing is typically offered to individuals without apparent symptoms, guided by a thorough family history and personalized risk assessment.

Prenatal Screening

Prenatal Diagnosis for Huntington’s disease (HD) is a pivotal process offering expectant parents the opportunity to ascertain if their unborn child has inherited the condition, involving consultations with genetic counselors and the option of undergoing either Chorionic Villus Sampling (CVS) or Amniocentesis procedures to obtain fetal genetic material for testing.

Preimplantation Screening

Preimplantation Genetic Testing, integrated into the IVF cycle, allows for the selection of embryos without genetic mutations, providing individuals control over their reproductive choices based on genetic testing results.