Your genetic partner: personalized genetic counseling and testing

Our Preconceptional Counseling service is designed for assessing reproductive risks and supporting couples or individuals who wish to plan a pregnancy in a conscious and safe manner.

This counseling is ideal for those who, by personal choice, wish to receive in-depth information, especially in the presence of a family history of genetic conditions. It is also aimed at couples referred by Assisted Reproduction Technology (ART) centers to ensure a personalized and thorough approach throughout the assisted reproduction process.

Through a comprehensive analysis, our team of experts assesses risk factors and provides clinical and genetic guidance to help individuals make informed decisions about their reproductive journey.

Prenatal Counseling is a specialized genetic consultation service during pregnancy, designed to provide targeted and comprehensive support, distinct from a simple pre-test consultation.

This counseling becomes essential in the case of ultrasound abnormalities or a family history of genetic conditions, providing couples with a detailed analysis of risk factors. It is also particularly recommended for couples who need to decide which prenatal diagnostic path to follow, such as choosing between NIPT, chorionic villus sampling, or amniocentesis.

Our team of geneticists provides clear and personalized information to help expectant parents make informed and conscious decisions, ensuring a safe and peaceful prenatal journey.

Postnatal Clinical Counseling for Adults is aimed at individuals with suspected genetic conditions and provides a thorough analysis of the possible genetic causes underlying specific medical conditions.

This counseling, typically requested by a specialist, aims to assess the genetic origin of a disease and identify any genetic tests that should be performed to confirm the diagnosis. Examples of conditions for which the counseling is indicated include:

• Nephrology: suspected polycystic kidney disease
• Neurology: neurodegenerative disorders such as ataxia, Huntington's chorea, amyotrophic lateral sclerosis (ALS), or prion diseases
• Cardiology: cardiac arrhythmias, dilated or hypertrophic cardiomyopathies, thrombophilia, or increased cardiovascular risk
• Ophthalmology: retinitis pigmentosa and other hereditary eye conditions

Our team of expert geneticists works closely with healthcare professionals to provide an accurate diagnosis and support the patient's therapeutic journey.

Pediatric Postnatal Clinical Counseling is aimed at children and adolescents up to 18 years old with suspected genetic conditions. This service aims to identify the genetic causes of various pediatric clinical conditions, providing an accurate diagnosis to support the appropriate therapeutic path.

Examples of consultations include:

• Child Neuropsychiatry: evaluation for psychomotor delay, intellectual disability, autism, epilepsy, or genetic syndromes
• Audiology: suspected congenital or acquired deafness
• Sports Medicine: cardiac abnormalities detected during screenings for competitive sports activities
• Dermatology: diagnosis and management of neurofibromatosis
• Orthopedics: genetic conditions such as exostosis, joint hypermobility, or recurrent fractures

Our team of pediatric genetics specialists works closely with doctors and specialists to ensure an accurate diagnosis and a personalized treatment plan for each young patient.

Oncological counseling is a service dedicated to all those who:

• Are currently affected by or have had a neoplastic condition
• Have a family history of cancer, with or without an already confirmed genetic predisposition
• Require a preliminary evaluation before undergoing specific medical treatments, such as assessing the risk of breast or ovarian cancer before starting birth control pills or undergoing Assisted Reproductive Technology (ART) treatments

This counseling not only provides an accurate clinical assessment but also incorporates an important genetic component, particularly useful for:

• Identification of genetic mutations: through oncological genetic counseling, it is possible to identify inherited mutations, such as those in the BRCA1 and BRCA2 genes, which can increase the risk of developing specific cancers (such as breast or ovarian cancer). This identification enables early diagnosis and the adoption of more effective preventive measures.
• Personalized risk assessment: each patient receives an individual oncological risk evaluation based on family and genetic factors. This approach allows for the creation of tailored monitoring and prevention plans, both for the patients and their family members.
• Guidance on treatment options: genetic counseling can influence therapeutic choices. In some cases, the presence of specific genetic mutations can direct patients toward targeted therapies, such as the use of PARP inhibitors for cancers with BRCA mutations. This allows for more specific and personalized care.
• Support for preventive and therapeutic decisions: in cases of family history of cancer, counseling can assist in deciding on preventive interventions, such as prophylactic surgery or intensive monitoring. Additionally, it can guide choices regarding fertility preservation or reproductive planning for oncology patients considering treatments like ART.
• Prevention for family members: oncological genetic counseling is not limited to the individual patient but can also involve family members, allowing for the identification of others at risk and the planning of preventive actions within a family context.

This counseling thus represents a crucial opportunity to personalize cancer prevention, diagnosis, and treatment strategies, based on the latest genetic and molecular knowledge.