Genetics

The final goal of the daily work of the Genetics Area is the well-being of the patient and the improvement of their quality of life, through the knowledge of their genetic condition, which can allow medical practitioners to improve clinical management. Genetics is at the center of what we know today as precision medicine, that is, the personalization of diagnoses and treatments to the individual characteristics of each patient.

The orientation of the studies is carried out in a coordinated manner with medical practitioners and allows the use of different methodological approaches, depending on the objective. In this sense, techniques of molecular genetics, classical cytogenetics and molecular cytogenetics are used. The area of ​​Genetics has a wide variety of technologies available, so that diagnostic tests are performed using the karyotype, comparative genomic hybridization techniques (arrays), fluorescent in situ hybridization (FISH), PCR-based tests and mass sequencing studies (NGS), including exome sequencing. These studies can be diagnostic, predictive or follow-up.

Therefore, the activity of CATLAB's Genetics area is aimed at the study of nucleic acid variants:

In order to carry out this task, we have equipment for process automation and optimization, image analyzers, programmable hybridizers, and software for cytogenetic analysis, automated nucleic acid extractors, conventional thermal cyclers and state-of-the-art RT, reverse hybridization equipment, high-resolution electrophoresis equipment, capillary electrophoresis for Sanger sequencing and fragment analysis (SeqStudio), as well as next-generation sequencing (NGS) (NextSeq 2000).

Many of the patients who undergo a genetic study have to face often complex, potentially distressing results, associated with a diagnosis that is usually for life and that in many cases can also affect other members of their family.

This is why the practice of genetic counseling is essential, supporting medical professionals to transmit, both to the patient and their family, the essential information about the disorder they suffer from and thus giving them the necessary tools to make decisions independently. LINK with information for patients (1) In this context of advice, the informed consent tool, available to professionals and patients on this website, is essential. LINK with CI (2)

The area of ​​knowledge of genetics is essentially transversal and, therefore, serves any medical specialty. Today, the main areas of expertise, in which genetic studies have the greatest impact, are neurogenetics, especially neuropediatrics, the study of minority diseases, oncohematology, the germinal study of cancer, the prenatal diagnosis of congenital anomalies, the genetic study of infertility, the study of genetic risk factors and pharmacogenetics.