Genetic testing - DNA in Bergamo

Predictive genetic testing analyzes DNA to identify predispositions to certain diseases, such as cancer, heart disease or neurological diseases.

Genomic analysis is usually performed on an asymptomatic person (who does not yet have symptoms of the disease) to identify gene mutations associated with an increased risk of developing certain diseases in the future.

These tests differ from diagnostic tests because, the latter, are used to confirm a disease in individuals who already show signs of it, the former are used precisely to assess the possibility of the onset of the disease.For this reason, it is important to specify that the results do not indicate a certainty, but a higher probability of developing a given disease, thus allowing for personalized preventive measures. 

How do you take the exam?

The test consists of a simple blood draw or buccal swab, DNA is analyzed by looking for variations (mutations or single nucleotide polymorphisms - SNPs) in specific genes associated with particular diseases. 

The results provide insight into the risk, not certainty, of developing a disease. 

What are they for?

• Personalized prevention: help plan preventive strategies, such as lifestyle modifications and targeted medical checkups. For example, a person with a predisposition to type 2 diabetes may adopt a healthier lifestyle
• Cancer risk: reveal predispositions to cancer (e.g., BRCA1 and BRCA2 i.e., genetic mutations for breast and ovarian cancer, melanoma, colorectal cancer, lung and thyroid cancer, etc.).
• Chronic diseases: they identify risks for ophthalmologic diseases such as macular degeneration or keratoconus, metabolic diseases such as diabetes, degenerative neurological diseases such as Alzheimer's and Parkinson's, for serious cardiovascular diseases such as stroke, thrombosis, myocardial infarction, Brugada syndrome, cardiomyopathies, and other conditions. 

Generic predictive testing: pairwise analysis, carrier testing

Carrier testing is genetic testing offered to couples before conception, through which it is possible to assess the presence of "healthy carriers" of DNA alterations that can lead to many serious diseases in the newborn. DNA samples are analyzed using state-of-the-art methods and tools including the application of Next Generation Sequencing, which allows analysis of the entire human genome in a few days. The results obtained are subjected to bioinformatics analysis, targeted mainly at the genes and pathologies selected for this study.

These conditions were chosen based on the American College of Medical Genetics (ACMG) and American Congress of Obstetricians and Gynecologist's (ACOG) guidance, especially based on the severity of the clinical picture at birth and incidence in the population.

Through these tests, more concretely, it is possible to search for mutations for maternal cystic fibrosis, dwarfism, and, with a brand new genetic screening, a mother's predisposition to give birth prematurely. Not only that, these tests also give information on maternal spinal muscular atrophy, hereditary maternal thrombophilia, and look for biochemical markers for prediction of preeclampsia (or gestosis).

Important to understand the importance of these tests and the results they communicate. In fact, a predictive genetic test can only be performed after genetic counseling and the results communicated by a physician during an interview. Only a physician can interpret the results and suggest the most appropriate prevention strategy. 

Fetal DNA testing

Fetal DNA testing is a noninvasive prenatal screening test (NIPT) that involves the analysis of free fetal DNA circulating on maternal blood to detect major syndromes such as Down syndrome, Edwards syndrome, Patau syndrome, and X- and Y-chromosome-related disorders such as Turner and Klinefelter syndrome.

Again, it is critically important to consult with a geneticist or specialist before and after the test to correctly interpret the result and together discuss the best clinical course of action.

At Life Clinic you can perform a wide range of genetic tests, and above all you can rely on experienced professionals who will be able to thoroughly assess whether or not you need to perform them, and interpret the results giving you the support and you need. Book a consultation with the right specialist for your issue.