Cytogenetic analysis will detect a variety of chromosome-based disorders and can be conducted on specimens with viable cells. Chromosome studies are conducted for prenatal diagnosis, postnatal diagnosis, and oncology. Source cells for cytogenetic studies include amniotic fluid, placental or fetal tissue, blood, and bone marrow.
Fluorescence In Situ Hybridization (FISH) studies can be performed on all the above specimen types as well as fixed tissue sections. This molecular cytogenetic technique involves the use of fluorescently labeled DNA probes specific to a region of a chromosome.