Preventbox Expanded Carrier Screening

Expanded carrier screening tests a single sample for carrier status across a large number of inherited recessive conditions simultaneously, rather than testing one gene at a time. Most people unknowingly carry several recessive variants; these have no effect on the carrier but become relevant when both members of a couple carry a variant in the same gene, which creates a risk of an affected child.

The laboratory's Preventbox package screens for predisposition to 111 conditions from one DNA sample. For couples planning a pregnancy, screening both partners identifies shared carrier status that would otherwise only come to light after the birth of an affected child, and supports informed reproductive options including prenatal or pre-implantation genetic testing. For individuals, it offers a broad preventive overview of inherited carrier status.

Because expanded panels assess many genes, results are best reviewed with genetic counselling so that carrier findings are interpreted accurately and any implications for family planning or relatives are explained. As a carrier screen, the test reports predisposition and carrier status; it is not a diagnosis of current disease.