Genetics and rare diseases

Understanding the genetic origin of certain diseases and assessing risks for yourself or your family.

• Constitutional genetic analyses (hereditary diseases):
  Analyses covering rare diseases, oncogenetics and somatic cancers. These examinations can identify genetic abnormalities for diagnostic, prognostic and therapeutic purposes. They include constitutional genetics (prenatal and postnatal) for the diagnosis of hereditary diseases and assessment of familial risks, as well as somatic genetics to characterise acquired abnormalities in solid and haematological tumours, guide treatment and ensure follow-up (including minimal residual disease).
• Genetic analyses of blood cancers:
  Analysis of genetic abnormalities in blood and bone marrow cells to better understand blood cancers. Our analyses help support diagnosis, assess prognosis, guide treatment choices and monitor the disease.
• Genetic consultation for suspected hereditary cancer:
  Identification of a hereditary predisposition to cancer, with genetic testing and the implementation of monitoring or prevention strategies.
• Genetic consultation for a rare disease:
  Investigation of a genetic cause in the presence of complex symptoms, in order to establish a diagnosis, adapt care and inform the family.
• Genetic consultation during pregnancy:
  During pregnancy, assessment of a risk or abnormality in the foetus, with proposed tests and support for parents in understanding the results.
• Genetic consultation before pregnancy:
  Assessment of genetic risks before pregnancy to guide reproductive choices and, where necessary, propose appropriate examinations.
• Hereditary metabolic diseases:
  Analysis used to detect an inborn error of metabolism, a rare genetic disease present from birth that prevents the body from properly processing certain nutrients. Symptoms are often non-specific, leading to blood and urine tests to identify abnormalities and determine the metabolic pathway affected.
• Genetic analyses for the characterisation and therapeutic guidance of solid cancers:
  Identification of molecular and genetic alterations associated with certain diseases, particularly cancers, carried out in collaboration with the genetics department.

Want to learn more?

Discover our educational resources on the NIPT (Non-Invasive Prenatal Testing) and constitutional genetics