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Laboratory of Molecular Genetics

Activity of the Molecular Genetics Labs at the Medical Genetics structure

The Laboratory of Molecular Genetics makes use of several methodologies of molecular screening to perform studies on DNA derived from biological samples of different nature (hematic, salivary, from tissue or fetal origin). The techniques applied for the identification of genetic point mutations are: dHPLC, HRM analysis and direct sequencing. These methodologies are sided by MLPA analyses or RealTime PCRs aiming to identify large deletions and insertions. Recently, the Laboratory has been equipped with very innovative technologies, such as the Next Generation Sequencing, with the goal to also introduce this methodology in routine diagnostics.

In addition, specific systems have been implemented to characterize the mechanisms at the base of the examined pathologies, such as studies in glycomics, in expression profiling and tests on biomarkers. These techniques, associated to innovative software realized internally and aiming to gather clinical, genetic and familiar data, allow us to obtain exhaustive descriptions concerning the situation of each visited patient, always guiding us further towards a personalized medicine.

To contact the Laboratory of Molecular Genetics for sending samples and receive information on the analysis, call + 39-051-6366039 (Mon-Fri 11:30 am - 1:00 pm).