Carrier screening is genetic testing performed to determine whether individuals or couples have a genetic change (variant) that may affect their chance of having a child with a genetic condition. Ideally, carrier screening options should be discussed with your doctor before pregnancy, as per RANZCOG recommendations. Genomic Diagnostics Genetic Carrier Screen tests for three core genetic conditions recommended in the general Australian population: Cystic Fibrosis (CF), Fragile X (FXS), and Spinal Muscular Atrophy (SMA). Many children affected by these conditions are born to families with no history of disease due to the relatively rare nature of the conditions and their inheritance patterns.
When should you be tested?
The ideal setting for carrier screening is in preconception, to allow the most time for dealing with all possible results. However, testing can also occur during pregnancy in the antenatal setting.
If you and your partner are shown to be carriers for any of these conditions, then genetic counselling is recommended. This allows for information provision and detailed discussions on potential impacts and their options.
Will I receive a bill from this test?
The test it is not covered by Medicare so there will be an out-of-pocket cost. Pre-payment is required by phoning 1800 822 999