Cytogenetics is the branch of genetics that studies the structure of DNA within the cell nucleus in order to derive the relationship between chromosomal aberrations and genetic diseases in human beings using traditional Karyotyping and FISH techniques to more advances molecular cytogenetics.
The Cytogenetics Laboratory at Meditest offers constitutional chromosome analysis of blood (peripheral blood and umbilical cord), chorionic villi, amniotic fluid, products of conception (miscarriages), and skin fibroblasts. Prenatal molecular cytogenetic tests include rapid aneuploidy detection (24–48 hours) of chromosomes 13, 18, 21, X, and Y by fluorescence in situ hybridization (FISH). Postnatal molecular cytogenetic tests target common microdeletion syndromes such as Prader-Willi syndrome, DiGeorge syndrome, and Williams syndrome.
The laboratory also offers oncological chromosomal analysis of bone-marrow samples from hematological malignancies. These include acute leukemia, chronic and acute myeloid leukemia, myelodysplastic syndrome, myeloproliferative disorders, multiple myeloma, and chronic lymphocytic leukemia.
In addition, cytogenetic testing is done on solid tumors, such as renal cell carcinoma, testicular tumors, and liposarcomas.