Molecular Cytogenetics is a rapidly evolving discipline that combines classical cytogenetic principles with advanced molecular tools to detect and characterise chromosomal alterations at high resolution. Conventional karyotyping provides a global view of chromosomal structure, while molecular platforms such as fluorescence in situ hybridization (FISH), multicolour spectral karyotyping (SKY), and array comparative genomic hybridization (aCGH) enable the detection of cryptic translocations, submicroscopic copy number variations, and complex rearrangements undetectable by banding techniques. More recently, next-generation sequencing (NGS)-based cytogenetics has expanded the scope of analysis by enabling genome-wide detection of structural variants, copy number imbalances, and mutational landscapes in a single assay. These innovations are particularly valuable in oncology, hematological malignancies, reproductive genetics, and congenital disorders, where precise genomic profiling informs diagnosis, prognosis, therapeutic targeting, and risk stratification. At CMDL, molecular cytogenetic testing integrates these state-of-the-art platforms to deliver comprehensive, clinically actionable insights, aligning with precision medicine and improving patient outcomes.
