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Carrier Screening Panel

Carrier Screening Panel

Carrier Screening is a multi-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: healthy carriers, in fact, are almost always asymptomatic and without a family history. Knowing your carrier status, in anticipation of a future pregnancy, is medical information of primary importance to avoid the hypothesis that a child is born with an autosomal recessive, X-linked pathology or with chromosomal aberrations and lays the foundation for a correct and timely prenatal diagnosis. If two partners are both carriers of the same autosomal recessive anomaly, there is a 25% chance of transmitting this anomaly to their children at each pregnancy. In the case of pathologies transmitted through the X chromosome, on the other hand, the risk that the healthy carrier mother generates an affected male child rises to 50%; the same percentage also concerns the risk of having daughters, also carriers. The clinical impact of Carrier Screening is well reflected in its potential: if both partners discover that they are carriers of the same pathology, this awareness can support optimal monitoring of pregnancy, promptly verifying any transmission to the child through more invasive prenatal diagnoses such as CVS or amniocentesis. Some of the pathologies investigated in Carrier Screening are the following: Duchenne and Becker Muscular Dystrophy, Achondrogenesis, Alport Disease, Bardet-Biedl Syndrome 1 and Canavan Disease, among others. This panel analyzes 302 genes and is recommended for couples who are planning a pregnancy and want to know their risk of transmitting a hereditary pathology; this need becomes even more stringent in the case of consanguinity between partners, belonging to a particular ethnic group, positive family history for a genetic conditions and in the case of recurrent pregnancy loss without other known causes.

Find out all the analyzed genes here

Prezzo di listino €49.00 EUR
Prezzo di listino Prezzo scontato €49.00 EUR
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This product is only meant for customers who already purchased a MyGenome Test