CGHArrays

CGHArrays, short for Comparative Genomic Hybridization Arrays, are a high-resolution molecular cytogenetic tool used to detect and analyze chromosomal abnormalities, such as gains, losses, and amplifications of DNA segments across the genome. These arrays are designed to provide detailed profiles of copy number variations (CNVs), which are critical in diagnosing genetic disorders, cancers, and developmental anomalies.

The core principle of CGHArrays involves hybridizing fluorescently labeled DNA samples—test and reference DNA—onto a microarray containing thousands of DNA probes that represent the entire genome. Differences in fluorescence intensity indicate regions where the test sample has duplications or deletions relative to the reference. This method allows for rapid, genome-wide screening with higher sensitivity and resolution compared to traditional banding cytogenetics.

CGHArrays have been widely adopted in clinical and research settings due to their ability to detect submicroscopic chromosomal alterations that are often invisible under a microscope. They are especially useful in identifying CNVs associated with developmental disorders such as autism and intellectual disabilities, as well as in oncology to identify tumor-specific genetic alterations.

Limitations of CGHArrays include a reduced ability to detect balanced chromosomal rearrangements, such as translocations or inversions, since these do not involve copy number changes. Despite this, advancements in array design and analysis continue to improve their diagnostic accuracy.

Overall, CGHArrays are valuable tools that enhance the understanding of genomic structural variations and support personalized approaches to diagnosis and treatment. They represent a significant step forward in genomic analysis by providing comprehensive, high-resolution insights into chromosomal alterations.

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