Head of Department: Dr. Geethani Galgoda

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.


Tests offered at Cytogenetics Department

  • Karyotyping - Bone Marrow
  • Karyotyping - Peripheral Blood
  • FISH - Aneuploidy (13-18-21-X-Y) from Amniotic Fluid / Blood
  • FISH - HER2 / NEU Amplification
  • N-MYC Amplification by FISH
  • ALK Rearrangement FISH
  • Lung Cancer Mutation Panel (EGFR, KRAS, ALK)


Advantages of Cytogenetic Testing

  • Cytogenetics offers several benefits; Cytogeneticists have developed ways to diagnose types of cancers and determine the best treatment method. The molecular study of chromosomes can provide doctors and their patients with a prognosis for developing certain diseases.
  • Infertility - To help determine if a fetus is at risk or may contain some specific diseases. Also you can uncover balanced genomic rearrangements that could be important to the phenotype and affect the offspring.

Examples Include:

  • Down Syndrome - Down syndrome is a diseased that is caused by an error in cell division called non-disjunction. It results in an embryo with three copies of chromosome 21 instead of two. It is called trisomy 21.
  • Edward Syndrome - Trisomy 18, also known as Edwards syndrome, is a condition which is caused by an error in cell division, known as meiotic disjunction. 
  • Patau Syndrome - Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers or toes, an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate), and weak muscle tone (hypotonia).