Chromosomal analysis by microarray
Array CGH is a chromosome analysis performed with a microarray technology, i.e., a high resolution analytical technique which allows a thorough and comprehensive study of the whole genome.
Array CGH has been in use in clinical practice since 2007. However, only in 2009 was established a consensual clinical and scientific criteria to use this analysis as a first tier test to study patients with psychomotor development delay, autism or polymalformative syndrome, and when the clinical indications are not suggestive of a specific genetic disorder.
The solutions offered by CGC Genetics include a very high analytical resolution together with the clinical interpretation of results carried out by our Genetic Medical Team. This alliance of different resources allows us to meet the higher European quality standards in the field of Medical Genetics.
CGC Genetics can offer two different resolutions, where the highest resolution has the greatest diagnostic capability:
Array CGH 750K
- 550 000 oligonucleotides for detection of DNA losses and gains
- 200 000 SNPs for detection of loss of heterozygosity (LOH) and uniparental isodisomy (UPD)
Array CGH HD
- 1 950 000 oligonucleotides for detection of DNA losses and gains
- 750 000 SNPs for detection of loss of heterozygosity (LOH) and uniparental isodisomy (UPD)
Array CGH available at CGC Genetics uses Affymetrix platform, a combined platform which allows to detect, besides DNA losses and gains, LOH which are highly important in diagnosis of recessive disorders and in cases of uniparental disomy.
Affymetrix platform used by CGC Genetics is the only FDA-validated platform for use in diagnosis of psychomotor delay, autism and polymalformative syndromes.