Most of single-gene disorders can lead to deformity, disability and death.
It identifies couples in which both partners are carriers. In this way it prevents serious genetic disorders, many of which are fatal, without therapy.
A POSITIVE result means the presence of one or more mutations in the person. In this case the test should be carried out on the other member of couple. If both partners carry a mutation in the same gene, there is a high risk of them having sick children. In these cases there are options for conceiving healthy children, sush as the Preimplantation Genetic Diagnosis test or gamete donation. It is also possible to conceive naturally then apply Prenatal Diagnosis.
A NEGATIVE result indicates that the person does not carry any of the mutations studied. However there is still a risk that the person carries other (less frequent) mutations which are not analyzed in this test.