Interphase Chromosome Profiling- a novel and disruptive technology. Poster presentation in “Indian society of Human Genetics”, Chennai, India, March 03-05, 2015.
The role of genetic diagnosis is steadily increasing in personalizing medical management of diseases. Karyotype plays an important role in establishing the diagnosis of malignancies and in determining the genetic basis of first trimester losses. However, current karyotypic methods are limited to the availability of enough number of mitotically active cells and analytical limitation to a specific number of metaphases. These limitations potentially give false negative results if the abnormal clone is in a minor population of cells or if it is not mitotically as active as the normal cells in culture. In addition, culture failure is a frequent occurrence in many tissue types. Therefore, the increasing role of genetics in diagnosis and patient management necessitates the development of sensitive and failure-proof refined high resolution cytogenetic methods. To meet this demand, we have recently developed and validated a novel cytogenetic technology ‘Interphase Chromosome Profiling (ICP)’ to assess the molecular karyotype of any tissue using interphase cells. This approach detects all numerical, most balanced and unbalanced structural aberrations, and all Robertsonian translocations.