aCGHanalüüsi

aCGHanalüüsi, which stands for array comparative genomic hybridization analysis, is a molecular cytogenetic technique used to detect chromosomal copy number variations (CNVs). It is a powerful tool for identifying gains or losses of DNA segments across the entire genome. The basic principle involves hybridizing two samples of DNA, typically a test sample and a reference sample, to a microarray containing thousands of DNA probes. These probes are arranged in a specific order and represent different regions of the genome. The test DNA and reference DNA are differentially labeled with fluorescent dyes. After hybridization, the relative fluorescence intensity of each probe is measured. Areas where the test DNA has a higher intensity than the reference DNA indicate a duplication (gain) of that chromosomal region, while areas with lower intensity suggest a deletion (loss). aCGHanalüüsi is widely employed in genetic diagnostics, particularly for identifying the causes of developmental delay, intellectual disability, congenital anomalies, and certain types of cancer. It offers a higher resolution and a broader genomic coverage compared to older techniques like karyotyping. The interpretation of aCGH results involves identifying significant CNVs and correlating them with known phenotypic associations.