Genetics

Genetic counselling provides information on genetic diseases to patients seeking support in dealing with inherited traits. During the interview with a geneticist, family risks and symptoms are assessed, guiding towards precise diagnoses and suggesting diagnostic tests or specialists. The choice of a genetic analysis is personal, involving medical, biological and psychological aspects. Detailed communication often involves the family and can influence decisions such as reproduction. Essential requirements are a multidisciplinary team and dedicated time. The genetic risk of congenital diseases is present for everyone, but counselling offers clarity and guidance.

Thanks to the presence and expertise of our GENETIST, patients who want support in managing their hereditary traits at risk for a disease that may be hereditary will be able to rely on her and will be followed and informed about the consequences of the disease, the ways in which it can be prevented or cured, the risk of its occurrence and the likelihood of transmitting it, and the related tests.

• Male and female infertility
• Polyabortion
• Tumours
• Genetic diseases
• Familiarity with genetic diseases
• Mental retardation (isolated or syndromic)

• The patient presents his problem and the counsellor studies the clinical documentation
• Family history and family tree reconstruction
• Clinical examination of the proband and possibly family members, in the case of level III counselling
• Request for instrumental investigations and laboratory tests
• Discussion of informed consent, if necessary
• Diagnosis
• Risk assessment
• Communication of the result: remember that advice should not be directive, but only informative
• Follow up