Cytogenetics Laboratory

The Cytogenetics Laboratory performs chromosome analyses on a variety of specimens, including peripheral blood, amniotic fluid, products of conception, bone marrow and solid tumors. Available tests include full metaphase karyotype as well as FISH (Flourescence In Situ Hybridization) studies.

FISH studies are important in the diagnosis of pediatric conditions such as DiGeorge syndrome, Prader-Willi syndrome, Angelman syndrome and Williams syndrome.