- WHAT GENETIC ANALYSIS IS FOR?
Molecular genetic analysis verifies the presence of gene mutations responsible for or predisposing to a genetic disease. The information obtainable from molecular genetic analysis can be used to:
- Confirm or rule out a suspicion formulated on a clinical basis;
- Identify individuals at risk within a family where the recurrence of a genetic condition is known: this allows you to implement specific prevention and / or plan periodic clinical checks;
- Know the risk of recurrence of a genetic condition (i.e. the probability of a patient passing on the condition to offspring)
- WHY IS AN INFORMED CONSENT NECESSARY?
All genetic analyzes are always carried out with informed consent from the patient (clickable). Consent is obtained during the pre-test consultation and, in case of need for further genetic analysis, renewed during the post-test consultation.
The patient is the only person who can authorize a molecular genetic analysis and has the right to change his / her decisions at any time, communicating it in writing to the Cardiogenetics Service.
All the results obtained from the molecular genetic analysis are stored in a protected database and subject to the constraint of professional secrecy. The service database is organized to serve both for diagnostic purposes and for scientific research.
- HOW LONG DOES GENETIC ANALYSIS TAKE?
The timing of the molecular genetic analysis in the proband generally does not exceed 6 months from the date of collection.
In the case of family mutation research, the genetic analysis execution times generally do not exceed 2 months.
- HOW ARE THE RESULTS OF GENETIC ANALYSIS INTERPRETED?
Any interpretation of the results of a molecular genetic analysis involves teamwork. This enables the management of the wide margin of variability in the results that can be conclusive or “of uncertain meaning”. This means that the information obtained may not enable the confirmation or exclusion of the condition that was suspected on a clinical basis. In these cases, the contribution of research (verification of the literature and execution of functional studies) can provide crucial information, and therefore can have an immediate clinical effect.
- DOES BEING A CARRIER OF A MUTATION ALWAYS MEAN HAVING A GENETIC DISEASE?
It is important to underline that, in Cardiogenetics, some patients carrying a mutation do not necessarily develop a genetic disease.. In fact, some mutations are to be considered predisposing factors rather than real causes of disease. This occurs because the onset of a cardiovascular genetic disease does not depend only on an individual’s DNA, but also on the interaction of the latter with the environment (habits and living conditions). Typical examples are some forms of arrhythmia transmitted genetically or some mutations that cause an increase in blood cholesterol values. The outcome of a genetic analysis can justify the planning of preventive checks for a patient who, at the time of the conclusion of the test, is not clinically affected by any pathology.