Pathology and Laboratory Medicine

Clinical Cytogenetics and Chromosomal Diagnostics

Clinical cytogenetics plays a vital role in identifying genetic anomalies responsible for various developmental, congenital, and neoplastic disorders. This session provides an in-depth exploration of current techniques used in chromosome analysis, including karyotyping, fluorescence in situ hybridization (FISH), and comparative genomic hybridization (CGH). Experts will discuss their clinical applications in diagnosing conditions such as Down syndrome, Turner syndrome, and various hematologic malignancies. The integration of cytogenetic data with molecular findings to guide targeted therapies and prognostic assessments will be emphasized. Advances in prenatal cytogenetics, non-invasive testing, and the role of chromosomal microarrays in routine diagnostics will also be covered. Attendees will benefit from expert insights on laboratory challenges, reporting standards, and quality assurance protocols. This session is designed for cytogeneticists, clinical geneticists, and laboratory personnel engaged in genetic diagnostics who aim to apply cytogenetic technologies to improve patient care and uncover hidden genetic contributors to complex diseases.