Centres of Excellence -> Individualized & Preventive Medicine -> Carrier screening

Carrier screening

The Carrier Screening Panel is a 302-gene panel aimed at investigating the probability of transmission of a genetic disease from parents to children. Each of us can be a healthy carrier of a hereditary disease without being aware of it. Knowing your carrier status, in anticipation of a future pregnancy, is medical information of primary importance for the prevention of the development of autosomal recessive and X-linked diseases in children whose parents are healthy. If both partners are carriers of the same autosomal recessive disease, there is a 25% chance that they will pass on the pathogenic gene variants to their children in each pregnancy. In the case of diseases transmitted by the X chromosome, the risk of a healthy carrier mother giving birth to an affected male child is 50%, and the risk of giving birth to a healthy daughter, also a carrier, is 50%. This panel is recommended for couples who are planning a pregnancy and want to know if there is a risk of transmitting a genetic disease to the child. Testing is especially recommended if there are already family members with a hereditary disease, in case of pregnancy loss without other known causes, in case of blood relationship between partners, or in case they belong to a certain ethnic group.

LIST OF ANALYZED GENES - Carrier screening panel (302 genes)

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