Conventional Cytogenetics

Conventional and molecular cytogenetics are essential tools for detecting chromosomal abnormalities in genetic disorders, cancers, and prenatal conditions. Conventional karyotyping visualises entire chromosomes, identifying structural rearrangements, aneuploidies, and large deletions. Fluorescence in situ hybridisation (FISH) adds higher resolution, targeting specific genes or regions for rapid, precise detection. Molecular cytogenetic techniques, such as array comparative genomic hybridisation (aCGH) and chromosomal microarray analysis (CMA), uncover submicroscopic copy number variations missed by traditional methods. Together, these approaches provide comprehensive genomic insights, guiding accurate diagnosis, prognosis, and therapeutic decisions. CMDL integrates both methodologies to ensure clinicians receive detailed, actionable data for personalised patient management.