The Department of Human Cytogenetics is involved in research, academic activities and provides state-of-the-art genetic diagnostic services to the patients attending AIMS and other hospitals. The department was established in January 2006. We are currently performing a comprehensive list of cytogenetic studies including fluorescent in situ hybridization (FISH) and bone marrow cytogenetics. The laboratory is equipped with colour imaging and computerized karyotyping system, this not only enables a broader spectrum of our services, a substantial shortening of turn around time of the results, but also provides the referring physician with higher quality of results.
Standard cytogenetic analysis permits diagnosis of numerical and structural chromosome analysis, but it has limitations. Deletions smaller than several million base pairs are not routinely detectable. This FISH (Fluorescence In Situ Hybridization) technique efficiently enables cytogeneticists to identify various numerical and structural alterations including aneuploidy, inversions, marker chromosomes, complicated or subtle translocations, and submicroscopic deletions and duplications.
The Cytogenetics laboratory at AIMS provides a comprehensive constitutional Cytogenetics service. The laboratory is staffed by highly skilled, experienced cytogenetic scientists. Our team has in-depth knowledge of cytogenetic and fluorescence in situ hybridization (FISH) analyses and takes pride in providing the highest quality of service to our customers.
We currently perform cytogenetic testing on amniocentesis samples, chorionic villi samples (CVS), products of conception, peripheral blood, cord blood and tissue biopsy.
Chromosome studies are an important laboratory diagnostic procedure in certain patients with intellectual or developmental delay of unknown etiology, unexplained minor or major malformations, abnormalities of growth or sexual development and in individuals with apparent infertility or recurrent pregnancy loss. Chromosome analysis on prenatal specimens is warranted in pregnancies with a higher Down syndrome risk (due to age or high risk serum screening), when foetal abnormalities have been found on ultrasound, or when there is a known parental chromosome rearrangement. Results of chromosome analysis on prenatal specimens are available within 10 to 14 days while results from peripheral blood can take 20 days.
FISH is used as an adjunct to conventional cytogenetic analysis and provides a rapid screen for the most common numerical chromosome abnormalities observed in the newborn: trisomy 13, trisomy 18, trisomy 21 and aneuploidy for X or Y. Because these studies are performed on uncultured cells, results are available within 2-3 working days.
We appreciate that waiting for the results of chromosome analysis is a very anxious time, so priority is routinely given to cases in the following patient categories:
Human Cytogenetics Lab
Amrita Institute of Medical Sciences and Research Center
Ponekkara P. O