Which specialist performs genetic carrier screening?

A clinical genetics specialist reviews your personal and family history, discusses ancestry and the conditions included in the panel, and explains what a carrier result may mean for a pregnancy. The sample itself may be collected by a nurse, doctor, or laboratory professional. A genetic counsellor may also provide pre-test and post-test counselling.

Bring any known family diagnoses and, when possible, details about relatives with inherited conditions. Ask whether your partner should be tested at the same time or after your result. Check whether the sample requires blood, saliva, or another collection method, and ask how results will be delivered and discussed.

Arrange genetics advice promptly if a close relative has a known inherited condition, a previous pregnancy was affected by a genetic disorder, or testing identifies a carrier finding during pregnancy. Seek urgent medical care for severe symptoms unrelated to the screening itself; carrier screening is not an emergency test.

Ask: Which conditions does this screening cover? What will a positive or negative result tell us? Could a result affect testing for my partner or baby? Who will explain uncertain findings, and how long should we expect to wait?