Genetic testing is the only way to find out if a person has a faulty ATM gene that they can pass on to a child. This testing may be a single gene test (where only the ATM gene is tested) or it may be undertaken as part of a broader test called reproductive genetic carrier screening.
Reproductive genetic carrier screening tests multiple genes at once. Usually, both members of the couple are tested to see if they carry genetic mutations that can cause certain genetic conditions in their child(ren). If a couple wants information about their chance of having a child with ataxia-telangiectasia, it is important that the reproductive genetic carrier screening they choose includes the ATM gene. More information about reproductive genetic carrier screening can be found here - genetics.edu.au/PDF/Reproductive_carrier_screening-fact_sheet-CGE.pdf
The options for testing for a faulty ATM gene vary between states and genetic services. In some cases, the test will not be covered by Medicare or the public health system and people may have to pay for genetic testing.
Pregnancy planning options are available to people who have a faulty ATM gene and want to prevent it from being passed on.
People from a family with a faulty ATM gene can contact their local genetic service or familial cancer centre for local advice – genetics.edu.au/SitePages/Genetic-Services.aspx