The Laboratory of Molecular Genetics of the Department of Rare Skeletal Disorders carries out genetic analyses in the field of rare skeletal diseases and hereditary connective tissue disorders.
Different methods are used on DNA from biological samples of various origins (blood, surgical tissue, prenatal). The main techniques applied for the detection of genetic mutations are: NGS (with Illumina and Ion Torrent platforms), Sanger sequencing and Digital PCR. These are accompanied by MLPA, Real-Time qPCR and Digital PCR analyses aimed at identifying large deletions and insertions. These techniques, combined with platforms for the collection of clinical, genetic and family data, and quality of life, allow us to obtain comprehensive pictures for individual patients, with a view to personalized medicine. Analyses may be requested for individual pathologies, in case of specific clinical presentation, or for groups of pathologies (e.g. bone fragility, joint hypermobility, congenital defects, skeletal dysplasia).
The laboratory team comprehends medical geneticists, biologists, highly specialized technicians and bioinformaticians, who collaborate closely with the Rare Skeletal Diseases Clinic, the Biobank of Genetic Samples (BIOGEN) and the Registries for rare hereditary diseases. These registries are available for the following conditions:
- Multiple Osteochondromas
- Osteogenesis Imperfecta
- Ehlers-Danlos Syndrome
- Ollier Disease and Maffucci Syndrome
- Li-Fraumeni
The laboratory is also active in the research on rare diseases and tumors. It participates in clinical trials and research projects in collaboration with other national and international stakeholders.
The laboratory is certified ISO 9001:2015.
How to access genetic testing
The indication to carry out molecular investigations should be discussed and evaluated by the medical specialist, preferably in the context of genetic counseling. To book a genetic counselling at the Rare Skeletal Diseases Clinic, contact the clinic by email: genetica@ior.it
How to send samples
For information on the sending of samples from external hospitals and information relating to genetic analysis, please refer to the attached forms or contact the laboratory at the following addresses:
Tel: +39-051-6366039 (lun-ven 11:30 - 13:00)
Mail: laboratorio.genetica@ior.it