is the study of chromosomes by a microscope. It is used to study an individual’s chromosomes makeup (karyotype). A normal human karyotype is composed of 22 pairs of autosomal chromosomes and one pair of sex chromosomes: XX in females and XY in males. Cytogenetic testing determines the number of chromosomes, and evaluates each individual chromosome for structural abnormalities such as deletions, translocations and duplications. Specimens for Cytogenetic studies include peripheral blood, bone marrow, amniotic fluid, products of conception, solid tumors and skin biopsies.
Cytogenetic abnormalities can be constitutional or acquired:
is a relatively new technique using fluorescent labeled DNA probes to detect chromosomal abnormalities that sometimes can be difficult to identify using conventional Cytogenetics karyotyping.
FISH is a powerful tool that offers rapid, sensitive and specific detection of chromosomal abnormalities including deletions and translocations.
Many FISH probes are available and are utilized in diagnosing genetic anomalies in a variety of clinical settings including congenital genetic disorders and malignant tumors.
A few widely used FISH probes include HER2/neu in Breast cancer, UroVysion in Bladder cancer, BCR/ABL in Chronic Myelogenous Leukemia (CML), and PML/RARA in Acute Promyelocytic Leukemia (APL).
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