Molecular diagnostics in Pathology

Molecular diagnostics in Pathology uses molecular techniques to determine specific abnormalities in tumour cells. The pathologists and clinical molecular biologists of Pathology-DNA also work together closely to determine the molecular properties of cells and tissues. The tissues or cells obtained from the patient are examined by the pathologists. In the laboratory, state-of-the art laboratory techniques are then conducted on the genetic material (DNA or RNA) from the tumour tissue or tumour cells in order to determine the molecular properties. The goal is to produce an optimal diagnosis, prognosis, and targeted treatment (personalised medicine).

The pathologists and technicans of Pathology-DNA have a lot of expertise when it comes to determing the presence or absence of molecular abnormalities in tumour cells. Abnormalities such as DNA mutations which have altered one or several base pair(s), larger DNA fragments that have been duplicated or lost, as well as chromosomal changes such als translocations. We know a lot about how the activity and changes of gene(s) can determine the properties of a tumour and how this knowledge can be used to make an optimal diagnosis and propose a treatment plan. The direct consultation between clinician, pathologist, and molecular biologist is a significant part of this.

In addition to diagnostics, Pathology-DNA invests in innovation and improvement in the field of molecular techniques, and we are closely involved with applied scientific research in collaboration with other departments and hospitals.

Ion torrent moleculaire pathologie

Overview of Laboratory Techniques

An overview of the molecular techniques that are available:

  • In situ hybridisation
  • (quantitative real-time) PCR
  • Fragment analysis
  • High-resolution melting curve analysis
  • Microsatellite analysis
  • B-cell and T-cell clonality assay
  • Sanger sequencing
  • Next generation sequencing (NGS)

Molecular tests

Examples of the most frequently conducted molecular tests within Pathology-DNA

  • Detection of HPV in cervical cancer
  • Presence of EGFR mutation in lung cancer
  • Absence of RAS mutation in colorectal cancer
  • Presence of ALK translocation in lung cancer
  • Presence of BRAF mutation in melanoma
  • Presence of Her2/Neu overexpression or amplification in breast cancer
  • Presence of B-cell and/or T-cell clonality in lymphomas
  • Microsatellite instability in colorectal cancer
  • Tissue mislabelling diagnostics