- For Whom?
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The GeneScreentest is suggested in the following cases:
• For couples who plan to become parents naturally or through medically assisted procedures
• For future parents wishing to reduce the risk of a genetic disease in the fetus
• For couples using eterologous fertilization so as to identify a donor that is not a carrier of the same gene mutations as one of the partners in the coupleThe exam can be done on one or both people in the couple
- What is diagnosed?
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GeneScreenallows the couple to learn, through the analysis of their DNA, if they are carriers of serious genetic diseases.
GeneScreenis a diagnostic test that allows multiple testing of more than 700 hereditary diseases, including the most common in the European population, such as Cystic Fibrosis, Sickle Cell Anaemia, Thalassaemia and Hereditary Deafness. The 550 genes examined are chosen according to:
- population incidence of the disease
- phenotype importance at birthfollowing the American College of Medical Genetics (ACMG) criteria (Grody et al., Genet Med 2013:15:482–483).