Cascade Screening

Once someone in the family finds that they are a healthy carrier of a recessive gene mutation, it then follows that there could be other carriers in the family, for example their siblings, parents, children or wider family members. The process of offering genetic testing to a wider circle of relatives after the first carrier is found, is known as cascade screening.

As described on our CarrierMatch page, recessive genes only cause disease in a child when inherited from both parents. Therefore, when a carrier is found in additional relatives through cascade screening, the next step is to test partners of carriers, to check if the couple are at high risk of having an affected child.

At CRGH we can offer either gene specific, or large carrier panel tests, for relatives requiring cascade screening.

To discuss further, please book a consultation with our Genetic Counsellor.