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Background Information
In 1993, a groundbreaking advancement in genetic testing transformed the way individuals at-risk of Huntington’s disease could determine their likelihood of developing symptoms. The discovery of the Huntingtin gene (HTT gene) location led to the development of molecular testing, now considered the gold standard for diagnostic and predictive testing for Huntingtin gene mutation. In addition to obtaining a definitive diagnosis, this breakthrough has enabled those with a family history of Huntington’s disease to discover whether they carry the mutated gene and may eventually develop symptoms. The process involves extracting DNA from a blood sample and quantifying the amount of mutated protein in the Huntingtin gene.
There are various benefits to molecular testing, depending on each individual’s circumstances. This methodology can be used alone or in combination with other tests to:
- Confirm a diagnosis of Huntington’s disease in a symptomatic individual.
- Assist a non-symptomatic family member with a history of Huntington’s disease in undergoing predictive testing.
- Support at-risk individuals in pursuing prenatal screening or preimplantation genetic testing.
The Testing Process
If you are considering predictive or genetic testing for Huntington’s disease, here are the steps involved. If you have any questions, please contact us directly.
Visit Your GP
Obtain a referral from your general practitioner to one of the genetic testing clinics.
Genetic Counselling
We recommend visiting a genetic counsellor where you can discuss family history, genetics, the reason that you are seeking testing, and potential impacts of any test result.
Visit the Clinic
If you choose to progress with testing, you will undergo a blood test where your DNA is then extracted to define your HTT gene. Results typically take between 8 to 12 weeks to be received.
It is crucial to note that while a positive genetic test confirms the presence of the mutated gene, it does not predict the onset or severity of symptoms due to the complex nature of Huntington’s disease.
It is a personal choice
There is no right or wrong decision whether to undergo predictive testing for Huntington’s disease, it is a personal choice and should be carefully considered.
Genetic counselling is a supportive discussion-based process to help you consider all relevant factors before making an informed decision. If you are wanting to explore IVF/PGD family planning options, you can also raise this with the genetic counsellor in your first appointment.
Other counselling support may be helpful to explore the outcomes and make sure you’re emotionally ready to make the decision.
Interested in a closer look at the steps involved in genetic testing for Huntington’s disease?