Cytogenetics


Cytogenetics

Cytogenetics is the study of chromosomal structure, location and function in cells. It includes the study of chromosome number and appearance (karyotyping), the physical location of genes on chromosomes, and chromosomal behavior in processes such as cell division.  Techniques used include G-banding and other cytogenetic banding techniques of chromosomes for karyotyping, as well as molecular cytogenetics such as fluorescent in situ hybridization (FISH) to study specific chromosomes or genes.

Chromosomal analysis (karyotyping) from peripheral blood is commonly carried out for different conditions such as female and male infertility, congenital malformations in newborns, amenorrhea, etc,. Karyotyping from bone marrow is mainly utilized for the diagnosis, prognosis or treatment of various types of blood cancers. FISH tests help in prenatal diagnosis and in detection of specific genes in various cancers.