Molecular pathological diagnostics is an integral part of the histological / cytological diagnostic process. It is primarily concerned with genetic alterations of neoplastic lesions on histological and cytological material.
Sanger sequencing and next-generation sequencing (NGS) of DNA make it possible to analyse genetic changes in tumours.
This method is used for the analysis of microsatellite instability (e.g. in colorectal carcinomas) and clonality in lymphatic neoplasms.
In situ hybridisation uses probes to analyse genetic changes at the chromosomal level in tumours.