Cytogenetics

Cytogenetic testing looks for changes in chromosomes that could be indicative of a genetic disease. This is an important diagnostic tool in fetal and genetic medicine, oncology, and haematology. Cytogenetic abnormalities are a cause of recurrent pregnancy loss, bad obstetric history, and infertility. It is not only important for cancer diagnostics but it is also predicted to be essential for making progress in drug discovery and personalized medicine.

This department has automated karyotyping and FISH workstations that perform scanning and imaging to capture metaphases automatically, as well as automatic fluorescence in-situ hybridization analysis (FISH signal counting).

Karyotyping and Fluorescent in situ hybridisation (FISH) are used to study haematological malignancies in the laboratory. FISH analysis is performed on formalin-fixed paraffin-embedded tissue sections, cell blocks and cytology smears of solid tumours. In addition to stress cytogenetics, the department has also used high-density arrays to characterize copy number variations in acute leukaemias.