Cytogenetic testing can be performed in a variety of situations, including solid organ malignancies, hematologic malignancies, congenital diseases. It can be performed prenatally after biochemical screening or ultrasound with abnormal findings. It is also used for parents with multiple miscarriages or significant findings in their pedigree analysis. Postnatally, Cytogenetic testing plays a role in distinguishing patients with mosaicism, intellectual disability, autism, or developmental delays.

Cytogenetic analysis can also be utilized to diagnose malignancies, determine appropriate therapy for prognostic stratification. This review explains the types of chromosome analysis, such as karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarray analysis (CMA).