Array platforms

Microgenomics laboratory performs genomic investigation by using several array platforms. Every platform has specific features for the prenatal or postnatal field.

Array platforms used in our laboratory are:

  • The MicrogenChip arrays have been specifically created by Microgenomics genetic laboratory for diagnostic applications of array-CGH,
  • The genome-wide array platforms, which can be used for different purposes. They contain probes  evenly distributed along the genome,
  • The ISCA platforms have been designed by the international consortium ISCA for the diagnostic application of array-CGH technology.

MicrogenChip Array

The MicrogenChip platforms have been designed by Microgenomics laboratory to optimize the diagnostic application of the CGH-array analysis. The aim is to increase the diagnostic accuracy of the analysis and extend the probability of identifying DNA anomalies causative of pathologies.

The MicrogenChip platforms, as well as the platforms developed by the International Standards for Cytogenomic Arrays Consortium – ISCA, are characterized by a higher density of probes in genes and genomic regions known to be responsible for genetic diseases (target regions). This feature ensures that MicrogenChip platforms are able to identify DNA anomalies not detectable with other array platforms, such as genome-wide platforms.

MicrogenChip platforms are constantly updated with the addition of new genes and genomic regions associated with new diseases reported in literature. The MicrogenChip platforms do not include genes responsible for late-onset pathologies (ex. Huntington’s chorea and Parkinson’s) or susceptibility genes.

  •  MicrogenChip 60K Array:

The MicrogenChip 60K array was specifically designed for application in prenatal diagnosis. This platform allows investigating with high-resolution about 250 genomic regions including more than 160 loci associated with congenital malformations and syndromes with mental retardation, telomeric and pericentromeric regions. The remaining genome is analysed with a lower resolution (about 250 Kb).

The features of the present array will drastically reduce the identification of DNA alteration of unknown clinical significance, representing the main problem in applying the array analysis in prenatal diagnosis.

List of pathologies investigated with the platform.

  •  MicrogenChip 180K  Array:

The MicrogenChip 180K array was specifically designed for application in postnatal diagnosis. This platform allows us to investigate with high-resolution about 500 genomic regions including about 390 associated with congenital malformations and syndromes with mental retardation, in addition to pericentromeric e subtelomeric regions. The remaining genome is analysed with an average resolution of about 180 Kb.

This platform is able to detect microdeletions and microduplications involving disease-genes not detected by other trading platforms; it provides high sensitivity and accuracy of the analysis reducing the probability of identifying DNA alterations of uncertain clinical significance.

List of pathologies investigated with the platform.

  •  MicrogenChip 60K CGH +SNP Array:

The Array MicrogenChip 60K CGH+SNP platform is similar to MicrogenChip 60K, containing approximately 8,000 probes SNPs on chromosomes 7, 11, 14 and 15. It is able to identify parental disomy and absence of heterozygosity of chromosomes 7, 11, 14, 15, DNA contaminations, polyploidies, chimerisms and low grade mosaicisms.

This platform has been specifically designed to optimize the diagnosis of genetic diseases in the prenatal field.

List of pathologies investigated with the platform.

  • MicrogenChip 180K CGH+SNP Array:

The MicrogenChip 180K CGH+SNP Array platform is similar to MicrogenChip 180K; it contains approximately 60,000 probes SNPs throughout the genome. It is able to identify uniparental disomies and the absences of heterozygosity, polyploidies, chimerisms and mosaicism throughout the genome.

This platform has been specifically designed to optimize the diagnosis of genetic diseases in postnatal  the field.

 List of pathologies investigated with the platform.


Genome-Wide Array

The Genome-Wide array platforms containing probes distributed in the entire genome, so that all  genomic regions are analysed with very similar resolution.

Microgenomics laboratory performs genomic investigation by using several genome-wide array platforms, which differ for the number of probes fixed onto the chip.

  • Genome-Wide 60K Array : 63.000 probes, average resolution about 120 Kb;
  • Genome-Wide 180K  Array: 181.000 probes,  average resolution about 40 Kb;
  • Genome-Wide 400K Array : 420.000 probes, average resolution about 20 Kb;
  • Genome-Wide 1M Array: 974.000 probes, average resolution about 9 Kb.

ISCA Array

ISCA Array platforms have been designed by the international consortium ISCA (International Standards for Cytogenomic Arrays Consortium, www.iscaconsortium.org) for the diagnostic application of CGH-array technology.

ISCA platforms have an higher density of probes in genes and genomic regions responsible for specific genetic diseases.

Microgenomics laboratory uses the following ISCA platforms:

  • ISCA 60K Array : about 500 genomic regions known to be associated to specific diseases  are analysed, the remaining genome is analysed with a resolution of about 250 Kb;
  • ISCA 180K Array: about 500 genomic regions known to be associated to specific diseases  are analysed but with an higher resolution than the ISCA 60K platform. The remaining genome is analysed with a resolution of about 100 Kb;
  • ISCA 180K CGH+SNP Array: ISCA platform similar to 180K, contains 60,000 SNP probes for the identification of uniparental disomy and LOH (loss of heterozygosity);
  • ISCA 400K CGH+SNP Array: ISCA platform similar to 180K, contains 120,000 SNP probes for the identification of uniparental disomy and LOH (loss of heterozygosity).