Molecular Genetics CMIB provides advanced DNA assays for the identification of hereditary, oncological and metabolic diseases. With the help of modern technologies and molecular biology specialists, the results are fast, accurate and professionally interpreted, helping to prevent disease and personalize medical treatment.
Molecular genetics studies the structure, functions, and changes in DNA and RNA in human cells, with the aim of identifying genetic mutations that can cause the emergence of hereditary, metabolic, oncological or infectious diseases.
Through molecular analysis, the doctor can detect invisible abnormalities by other methods, which allows an early and personalized diagnosis. This approach is essential for modern preventive and precision medicine, adapting treatments to the genetic peculiarities of each patient.
Molecular genetics tests are recommended when the patient has symptoms that suggest a genetic disease (neuromuscular, metabolic, endocrine or hematological), or when there are similar cases in the family.
Molecular tests can identify genetic mutations associated with an increased risk of cancer (BRCA1, BRCA2, TP53, APC, etc.) or determine the sensitivity of a tumor to certain treatments (targeted therapy companion tests).
Couples who want children can turn to molecular genetics tests to assess the risk of transmission of hereditary diseases and to make informed decisions about in vitro fertilization or prenatal screening.
Molecular genetic analyzes can show how the body reacts to certain drugs, allowing the doctor to prescribe personalized, effective and safe treatments.
The procedure begins with a medical genetics consultation, during which the doctor analyzes the family history, symptoms and determines the type of test needed. The patient receives clear explanations about the relevance and limits of the test.
The test usually involves a simple blood collection or sampling of epithelial cells from the oral mucosa (saliva). The samples are then sent to the laboratory for DNA analysis.
DNA is extracted, amplified and sequenced using molecular biology technologies (PCR, Real-Time PCR, New Generation Sequencing — NGS). The results are interpreted by the geneticist, who correlates them with the patient's history and provides personalized recommendations.
It detects genetic mutations responsible for already manifested diseases, helping to confirm the clinical diagnosis and the choice of appropriate treatment.
Assess the risk of developing certain diseases in the course of life — cancer, diabetes, cardiovascular disease, Alzheimer's, autoimmune diseases, etc.
Identifies people who carry a genetic mutation that can be passed on to offspring, even if they do not show symptoms. These tests are essential in family planning.
Analyzes free fetal DNA in the mother's blood for chromosomal abnormalities (e.g. Down syndrome, Edwards, Patau) without risk to pregnancy.
Determines how genes influence the response to drugs (eg: anticoagulants, antidepressants, oncologics), in order to personalize therapy and avoid side effects.
Breast, ovarian, colon, lung, pancreatic, or melanoma cancers with known genetic mutations.
Cystic fibrosis, Duchenne muscular dystrophy, Wilson's disease, phenylketonuria, thalassemia, hemophilia.
Huntington's disease, amyotrophic lateral sclerosis (ALS), genetic epilepsies, mitochondrial diseases.
Turner syndrome, Klinefelter, Prader-Willi syndrome, Marfan syndrome.
Type 2 diabetes, obesity, hypertension, genetic thrombophilia, autoimmune diseases.
Molecular tests identify genetic changes at the DNA level, providing an objective and detailed diagnosis, even before symptoms appear.
The results allow the development of personalized prevention, lifestyle and treatment plans, adapted to the individual risk of each patient.
In oncology and other specialties, molecular genetic tests guide the doctor to targeted treatments, increasing the chances of success.
It allows counseling family members and early identification of genetic risk for future generations.
No special preparation is required before harvesting. It is recommended that the patient bring previous medical documents, results of laboratory analyzes and family history.
The geneticist discusses the test results, explains their clinical significance, and provides personalized recommendations on the necessary monitoring or treatments. In some cases, additional tests for close relatives may be recommended.
Discover the power of genetic information and make informed decisions for your health and that of your family. Schedule now for a molecular genetics consultationand benefits from advanced technology, precise analysis and personalized interpretation by human genetics specialists.
