What does genetic carrier screening treat?

A carrier usually has a gene variant without having the related condition. Screening may look for variants linked with conditions such as thalassaemia and other inherited disorders. The result can help clarify whether one or both partners carry a variant that could be passed to a child.

A positive result is not a diagnosis of illness in the person tested. Results may need confirmation and genetic counselling. A negative result reduces the chance for the conditions included in the test but cannot examine every possible genetic change.

Discuss the test before pregnancy or early in family planning when possible. Ask what conditions are included, whether your partner should test, and how results may affect pregnancy choices. Depending on the findings, options may include diagnostic testing during pregnancy or embryo testing such as PGT-M.

Arrange genetic counselling after a positive, uncertain, or unexpected result, especially if you are pregnant or planning pregnancy soon. Seek medical advice promptly if a result raises concern about an existing symptom; carrier screening alone does not explain every health problem.

Which conditions does this panel assess? What does my result mean for my partner and future children? Should relatives be offered testing? Do I need confirmatory testing or genetic counselling? What reproductive options are available?