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Chromosome Microarray Analysis:

Information for Health Professionals

Microarray analysis is a DNA-based method of genetic analysis, which can identify clinically significant chromosome abnormalities that are below the resolution of conventional chromosome analysis.  Microarray analysis can be performed on prenatal diagnostic samples, peripheral blood, and products of conception.

How does chromosome microarray analysis work?

DNA from the sample is prepared and hybridized to a glass slide, on which a large number of molecular probes are arrayed; these probes consist of small segments of DNA corresponding to clinically significant (and potentially significant) regions covering the entire genome.  Currently available microarrays contain more than two million unique DNA probes.  Computerized analysis of the hybridization pattern on the slide reveals the number of copies of DNA corresponding to each probe location.  Therefore, this analysis is able to diagnose deletions and duplications of whole chromosomes, portions of chromosomes, and specific locations where copy number variants (CNVs) are associated with particular genetic diseases.

What types of disorders can chromosome microarray analysis diagnose?

What are some other important points? Recommendations for chromosome microarray analysis?
Genetic consultation can be helpful in ordering and interpreting microarray analysis, and may also identify an indication for additional genetic testing, based on clinical findings and family history, when determining a diagnosis.

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