Genetic illnesses in the field of reproduction can affect a couple’s fertility or cause transmission of genetic illnesses to their descendants.

It is estimated that 15% of couples are affected by infertility, attributed to equally by both members of the couple. In couples not affected by infertility, transmission of genetic illnesses to their descendants is more common than we think, taking into account that each person, even though they may not be affected has an average of 2,8 pathogenic genetic variants. 50% of deaths and 25% of paediatric hospitalisations are caused by hereditary illnesses. 

Genetic study can help in finding out the cause of infertility of the couple or whether their ancestors are carriers of genetic variants that can cause autosomal recessive illnesses or related to the X chromosome. In this way, along with the correct genetic assessment, patients can be provided with clinically useful information so that they are able to plan their pregnancy and/or paternity in function of their personal values, helping them to significally reduce the transmission of illnesses to their descendants.

At Reference Laboratory Genetics we have a wide range of specialised tests for the reproductive system, enabling us to offer the most appropriate test to each patient: from screening to diagnosis, including prevention and prognosis.

Our NGS panels for the reproductive system include genes clinically associated with various reproductive illnesses: