arrayCGHtutkimuksiin

arrayCGHtutkimuksiin, also known as array comparative genomic hybridization, is a molecular cytogenetic technique used to detect chromosomal copy number variations (CNVs) across the entire genome. It allows for the identification of deletions and duplications of DNA segments, which can be associated with various genetic disorders and diseases, including developmental delays, intellectual disabilities, and certain types of cancer.

The method involves hybridizing labeled test DNA (e.g., from a patient sample) and reference DNA (e.g., from a healthy individual) to a microarray containing thousands of DNA probes. These probes are designed to represent specific chromosomal regions. The relative fluorescent intensity of the hybridized probes on the array indicates whether there is a gain (duplication) or loss (deletion) of genetic material in the test sample compared to the reference.

arrayCGHtutkimuksiin offers higher resolution and genome-wide coverage compared to traditional cytogenetic methods like karyotyping. It can detect smaller CNVs that might be missed by other techniques. The interpretation of arrayCGH results requires expertise to distinguish between pathogenic CNVs and benign variations. Modern arrayCGH platforms utilize sophisticated software for data analysis and visualization. This technique is a valuable diagnostic tool in genetics and oncology, aiding in the diagnosis, prognosis, and genetic counseling for individuals with suspected chromosomal abnormalities.