Array CGH (Comparative Genome Hybridisation) is a technique that detects all the existing duplications and deletions in a patient’s DNA. It works by comparing a control DNA with the DNA of the person under study. The technique is widely used in neuropaediatrics, since most of the related syndromes are caused by microdeletions or microduplications of gene regions.
Several years ago national and international scientific associations reached an agreement in which they indicated Array CGH as the technique to be used as the first line of diagnosis in cases of developmental delay, psychomotor retardation, peculiar phenotypes or autism, amongst others, relegating the classic karyotyping.
Implementation of this technique considerably increased the diagnostic capacity in these cases, making for a significant clinical improvement by enabling early application of the treatment.
The diagnostic capacity of this technique depends on the coverage of the array, as there are different coverages, ranging from 60K to 750K. The greater the coverage, the greater the diagnostic capacity. There are two types of array CGH if we consider the type of technology applicable. On the one hand, arrays which detect gains and losses of DNA using oligos, as we have discussed, and, on the other hand, mixed array CGH, which as well as detecting gains and losses of DNA using oligos, also detect losses of heterozygosity and uniparental disomy using SNPS.
ICM has a wide range of types of arrays with different coverages and/or mixes to offer a diagnostic solution for every need.
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