Is There A Test For Huntington's Disease (HD)?

Predictive Testing

Since the marker gene for HD was discovered in 1983 it has been possible for an "at risk" person 18 years or over to have a predictive test.

Deciding whether to have the predictive test is a very personal choice. It needs to be considered carefully because the implications vary for each person. But you won't have to make the decision without support, as counselling is a major part of the testing program.

Prenatal Predictive Testing

There is also a prenatal form of the predictive test for HD. The purpose of prenatal testing is to screen the foetus in order to avoid passing on the HD gene to the next generation.

If the foetus is found to have a high risk of carrying the HD gene termination of the pregnancy can be considered by the parents.

Pre-implantation Genetic Diagnosis

Pre-implantation genetic diagnosis is new form of prenatal testing that utilises advanced reproductive technology. It avoids the need for termination of a pregnancy where the foetus has inherited the HD gene.

The testing involves creating embryos in vitro (in a test tube). The embryos are then tested to see if they have the defective gene. Only embryos which do not have the defective gene are then implanted in the female partner who it is hoped will become pregnant.

Need More Information?

If living in New South Wales or the Australian Capital Territory, contact the Association and we will give you details of your closest genetics service. For those living in other parts of Australia, contact the Association that covers the state where you live.

Genetics services are staffed by clinical geneticists, genetics counsellors and social workers and can provide more detailed information and arrange counselling and/or testing if required.

[This page is based on the Association's publication Huntington's Disease. Originally written by Dennis H. Phillips, Ph.D. and first published in 1981, it has been frequently revised and republished since then. The current edition was published in 2001. (Australian Huntington's Disease Association (NSW) Inc.Huntington's Disease West Ryde, 2001.)]

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