Molecular diagnostics in Pathology
Molecular diagnostics detects abnormalities at (primarily) DNA and RNA level in tumour cells, with the aim of providing an optimal diagnosis, prognosis and targeted therapy for the individual patient ('precision medicine'). In this field, clinical molecular biologists in pathology work closely with pathologists and molecular analysts. All analyses are performed in an ISO15189 certified laboratory. Molecular diagnostics of clinical chemical and pharmacogenetic indications are also performed at our location in the Jeroen Bosch Hospital, in close collaboration with the Department of Clinical Chemistry and Pharmacy.
An overview of the molecular techniques that are available
- Next generation sequencing (NGS)
- Fragment analysis
- B- en T-cel clonality assay
- Microsatellite analysis
- In situ hybridisation
- (quantitative real-time) PCR
- High resolution melting curve analysis
- Sanger sequencing
Pathologie-DNA is also one of the five centres for population screening for cervical cancer, where smears and self-collection samples are tested for the presence of the human papillomavirus (HPV) and, when positive, a follow-up examination takes place through cytological assessment of the cervical smear.
In addition to performing routine diagnostics, Pathologie-DNA also contributes to innovation and improvement in the field of molecular techniques. To this end, we cooperate with companies, (academic) hospitals, universities and other hospital departments that are connected to Pathologie-DNA. We are currently working on expanding the NGS portfolio for an even more complete molecular diagnosis and analysis of copy number variations (amplification and deletions) using NGS.