The following webpage aims to give you information about genomic testing and what it may mean for you and your family. We hope that this information, alongside a discussion with your health professional, will help you make an informed decision about whether to have testing.
The key information about genomic testing can be found on this page. If you are interested in knowing more, click the dropdown arrows in each section for more detailed information.
Please note that while this webpage explains genomic testing, your health professional may or may not offer you testing in your appointment. You will be required to fill out a consent form if you decide to undergo testing.
If you have any questions about the information on this webpage, please contact your health professional or ask them during your appointment.
The following webpage aims to give you information about genomic testing and what it may mean for you and your family. We hope that this information, alongside a discussion with your health professional, will help you make an informed decision about whether to have testing.
The key information about genomic testing can be found on this page. If you are interested in knowing more, click the dropdown arrows in each section for more detailed information.
Please note that while this webpage explains genomic testing, your health professional may or may not offer you testing in your appointment. You will be required to fill out a consent form if you decide to undergo testing.
If you have any questions about the information on this webpage, please contact your health professional or ask them during your appointment.
Genetic and genomic testing are used to find changes in your genes that may cause a genetic condition.
There are many reasons why someone may have a genetic or genomic test. Here are some of the more common reasons:
Finding a cause. Finding out if you carry a condition. Confirming a diagnosis. Tracking a condition through the family. Diagnosing a condition through pregnancy.
Why might you have a test?
You may have a test to try to find the cause of a genetic condition.
Your health professional may call it diagnostic testing.
What are the possible results?
Why might you have a test?
You may have a test to see if you carry a gene change that could be passed to your children, but which is unlikely to affect your own health.
Your health professional may call it carrier testing.
What are the possible results?
Why might you have a test?
You may have a test to confirm a clinical diagnosis you have previously received.
Your health professional may call it confirmation testing.
What are the possible results?
Why might you have a test?
You may have a test to understand how a gene change found tracks through the family. This can be done for various reasons.
For example, if a child has a very rare condition and their parents do not, it is more likely the gene change is the cause. Sometimes tracking the gene change across all affected family members can be helpful as the more affected family members who have the gene change, the more likely that it is the cause.
Your health professional may call it segregation testing.
What are the possible results?
Why might you have a test?
You may have a test to diagnose a genetic condition in your pregnancy.
Your health professional may call it prenatal testing.
What are the possible results?
In the spirit of reconciliation Australian Genomics acknowledges the Traditional Custodians of country throughout Australia and their connections to land, sea and community. We pay our respect to their elders past and present and extend that respect to all Aboriginal and Torres Strait Islander peoples today.
