Pathology and molecular genetics

Molecular Pathology and Genetics is the application of molecular biology techniques for diagnostic purposes. These are analyses aimed at detecting chromosomal alterations, mutations, or other gene abnormalities in tumor tissue that can aid in precise diagnosis or in defining personalized cancer therapy. The same techniques can also be used to detect microorganisms in inflammatory or cancerous lesions.

Areas of expertise

Medical skills
  • Application, interpretation, and consultation for molecular pathology and genetic analysis in the patient diagnostic pathway.
  • Selection of appropriate material for molecular analysis, optimizing the use of available diagnostic material, particularly in the case of small samples.
  • Reporting of gene alterations that suggest hereditary disease and thus need genetic counseling.
Technical skills
  • Characterization of chromosomal rearrangements, mutations and other gene abnormalities by FISH (Fluorescence in situ hybridization), PCR (Polymerase Chain Reaction), DNA sequencing or fragment analysis.
  • Analysis of multigene panels comprising up to 400 genes using "Next Generation Sequencing" technology, NGS).
  • Methylome analysis of neoplastic lesions with particular application in brain tumor diagnostics.
  • Specific testing for breast cancer based on gene expression by detection of tumor RNA molecules (Endopredict) to obtain useful information to determine the real need for chemotherapy.
  • Application of ultra-sensitive detection methods that allow analysis of tumor DNA in blood ("liquid biopsy"), thus avoiding in selected cases invasive tissue sampling for the patient.

Pathology and molecular genetics examinations

The Cantonal Institute of Pathology EOC has validated and accredited a broad spectrum of molecular pathology analyses, which are very useful for a more precise definition of the diagnosis but especially essential for establishing targeted treatments in cancer patients. In addition to the molecular result inherent in sporadic mutations in tumor DNA, the EOC reports in selected cases indicate possible targeted drugs and open clinical trials. It may be useful to discuss with pathologists or biologists the best strategy to investigate the mutational profile of a tumor before requesting analysis. For any information after receiving the test result, one can contact the pathologists or biologists who signed off on the report or bring the patient in for discussion at one of the many weekly interdisciplinary meetings. Turnaround time for a molecular pathology examination varies from 5 to 10 working days, depending on the complexity and type of examination.

Doctors

Contact

Istituto di Diagnostica Integrata della Svizzera Italiana

Laboratorio di Patologia e genetica molecolare

Clinica di Patologia, Locarno

  • Orari di risposta al telefono
    Monday : 08:00 - 12:00 / 12:00 - 18:00
    Tuesday : 08:00 - 12:00 / 12:00 - 18:00
    Wednesday : 08:00 - 12:00 / 12:00 - 18:00
    Thursday : 08:00 - 12:00 / 12:00 - 18:00
    Friday : 08:00 - 12:00 / 12:00 - 18:00

  • Chiusura dell’ambulatorio
    Saturday
    Sunday

Locations

The Service of Pathology and Molecular Genetics reports to the Cantonal Institute of Pathology located in Locarno on Via in Selva.

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.