What is the primary purpose of a microarray in genetic testing?

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A microarray is a powerful tool in genetic testing primarily utilized for the detection of microdeletions and duplications within the genome. This technique allows for the simultaneous analysis of thousands of genes and can identify variations in DNA that are too small to be detected by traditional methods such as karyotyping. The microarray technology works by hybridizing DNA samples to arrays that contain specific probes representing different genomic regions.

The identification of microdeletions and duplications is critical in diagnosing various genetic conditions associated with chromosomal abnormalities, such as developmental disorders, congenital anomalies, and certain cancers. This targeted approach makes it particularly effective for uncovering subtle genomic imbalances that contribute to phenotypic variations without the need for more extensive, traditional testing methods.

While identifying all potential genetic conditions could be seen as an appealing goal, microarrays focus specifically on these smaller structural variations rather than providing a broad screening for every possible genetic disorder. A complete karyotype analysis involves examining larger chromosomal abnormalities, which does not capture the more nuanced changes detectable by microarrays. Similarly, assessing inherited traits often involves different methodologies focused on tracking specific alleles or genetic markers rather than the broader structural variations assessed with microarrays.

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