Cytogenetics

Cytogenetics

Constance K. Stein, PhD, Director
Phone: 315 464-4716

Lori Plaisted, BS, CLSp(CG), Cytogenetics Laboratory Supervisor
Phone: 315 464-4716
Email: plaistel@upstate.edu

The primary tool of Cytogenetics is karyotype analysis which evaluates all of the chromosomes of a set to determine if there are any changes present that may be associated with disease. Cytogenetic evaluation is utilized in prenatal diagnosis, genetic carrier testing, and assessment of congenital disorders and hematologic disorders. Appropriate specimens include peripheral blood, bone marrow, tissue, and amniotic fluid. Computer technology is very important, allowing the images to be captured and stored electronically. Advanced studies utilize fluorescence in situ hybridization (FISH) for the detection of molecular level abnormalities.