Cytogenetics

Medical Scope

The Department's activities fall into three main sectors, namely prenatal diagnosis (amniotic fluid, foetal blood, foetal biopsies), constitutional cytogenetics (blood) and onco-haematological cytogenetics (bone marrow).

In addition to our laboratory diagnosis activities, the physician can ask for advice before tests are performed or about results.

Activities and Techniques

After tissue culturing, constitutional cytogenetics involves digital and structural chromosomal image analysis. The technical means and skills used in the Cytogenetics Department are highly performant and karyotypes are turned around in an average of 14 days.

Biomnis can also perform fluorescent in situ hybridisation (FISH) on primary amniocytes for the rapid diagnosis of trisomy (13, 18 and 21) and gender determination. This technique cuts down screening time to just 48 hours. FISH can also be used to investigate microdeletions or HER2 amplification (as seen in breast cancer) and detect the BCR-ABL gene fusion (which is associated with chronic myeloid leukaemia).

Research and Development

One of the themes currently under development is assessing the pre- and post-zygotic impact of chromosomal abnormalities after successful Medically Assisted Reproduction procedures. In addition, the team closely follows the various approaches to separating and harvesting foetal cells from the mother's blood with a view to developing a new prenatal diagnostic method. Biomnis is also developing novel techniques, notably to detect amplification of HER2 (CISH, SISH).