Medical genetics (laboratory)

The Medical Genetics Service consists of the Molecular Diagnostics Laboratory and the Cytogenetics Laboratory.

Benefits offered

The goal of the Service is to offer high-quality genetic analysis, ensuring accurate and timely responses to referring physicians with useful and up-to-date information on genetics and genetic diseases. The outcomes of genetic analysis can in fact provide important information with respect to patient diagnosis, best available treatment, prevention of possible medical complications, and heredity of certain diseases. Constant updating on the latest technologies and methodologies is guaranteed so that we can offer the highest level of performance to our patients. The laboratory caters to both private patients and medical specialists, also offering data interpretation support.

Workshops

Laboratory of Molecular Diagnostics

The laboratory uses advanced molecular techniques to analyze the genetic material (DNA and RNA) of biological samples in order to diagnose and assess the risk of developing certain genetic diseases. Strict quality control and safety protocols are performed, ensuring maximum reliability and confidentiality of results.

Currently, diagnostic offerings include coverage of several pathological conditions. The main molecular biology techniques used are: Real-Time PCR, Next Generation Sequencing (NGS), Sanger sequencing, MLPA, fragment analysis, capillary electrophoresis.

Useful Information
Users can access our molecular diagnostic services through their primary care physicians or medical specialists. Detailed information on biological sample collection, result delivery time, and cost will be provided upon request.

Laboratory manager: Gaudio Gloria

Cytogenetics Laboratory

The laboratory specializes in the analysis of the chromosomes contained in a cell and allows the identification of structural and numerical chromosomal alterations through conventional (karyotype) and molecular (fluorescence in situ hybridization, FISH and microarray) cytogenetic techniques. These analyses are fundamental in peri-prenatal, postnatal and oncohematological diagnostics. The laboratory follows strict quality control and safety protocols, ensuring maximum reliability and confidentiality of results.

Diagnostic offerings include cytogenetic analysis on samples of:

  • Bone marrow aspirate
  • Peripheral blood
  • Amniotic fluid
  • Chorionic villus
  • Abortion tissue

Useful information
Users can access our services through their primary care physician or medical specialists. Detailed information on biological specimen collection, result delivery time, and cost will be provided upon request.

Laboratory manager: Gaudio Gloria

The English version of this page was created with the aid of automatic translation tools and may contain errors and omissions.
The original version is the page in Italian.