chromosomal microarray analysis
Chromosomal microarray analysis is a laboratory technique used to detect genetic abnormalities by examining a person's chromosomes. It involves comparing a sample of DNA to a reference genome to identify missing or extra pieces of genetic material, known as copy number variations (CNVs). This method is particularly useful for diagnosing developmental disorders and certain diseases.
The process begins with extracting DNA from a sample, which is then labeled and hybridized to a microarray chip containing thousands of DNA probes. The results provide a detailed map of the chromosomes, helping clinicians understand genetic conditions and guide treatment options.