Karyotyping and CGH

Karyotyping Each chromosome pair is visualized. Deviations from normal kariotype are analyzed and provide a foundation for further treatment.

CGH Tumor DNA is labeled with a fluorochrome, which is subsequently mixed (1:1) with red-labeled normal DNA (1) and hybridized to normal human metaphase preparations(2). The green- and red-labeled DNA fragments compete for hybridization to their locus of origin on the chromosome(3).

Determining the karyotype is of particular interest in certain cancer types. We often observe numerical chromosomal changes in cancer cells, meaning that certain chromosomes are present in too few or too many copies. It has now been shown that all types of neoplasia, studied in a sufficient number to draw conclusions, have acquired clonal chromosomal abnormalities. The identification of specific chromosomal aberration is fundamental for the correct diagnosis, prognosis and treatment of many types of cancer.  The chromosomal aberrations can be  numerical and/or structural. Structural rearrangements, such as translocations, can create fusion genes. Fusion genes are most common in leukemias, lymphatic cancer and sarcomas. The results are used clinically to determine the cancer type, and adjust the treatment plan accordingly.

Augmented demand

In 2015 we received 2.465 samples for karyotypic analysis. These were from blood or bone marrow leukemias, lymphomas, and solid tumors suspected of being sarcomas, carcinomas or brain tumors. We perform additional FISH analyses to finely identify the genes involved in the rearrangements. 

For more about Cancer cytogenetics, click here.

Comparative genomic hybridization (CGH) is a molecular cytogenetic method for analyzing copy number variations (CNVs) relative to ploidy level in the DNA of a test sample compared to a reference sample, without the need for culturing cells.