DIAGNOSTICS THROUGH MICROARRAY
PRENATAL DIAGNOSIS
COMPANY PROFILE Microgenomics S.r.l. is a spin-off company of the University of Pavia founded by the research team of Molecular Cytogenetics of the Department of Molecular Medicine. The Microgenomics laboratory is a highly specialized diagnostic center providing molecular investigation services based on the array-CGH technology. Specialists working in the Microgenomics laboratory are considered, in Italy and abroad, leading experts in the fields of molecular cytogenetics, genomics and microarray analysis, as shown by the numerous publications in major scientific journals and the lectures, on invitation, at the most prestigious international scientific conferences on genetics. R&D activity is an essential element of Microgenomics laboratory. The aims of which are qualitative excellence, implementation of new diagnostic technologies and optimization of those already used in the laboratory.
ARRAY-CGH The array-based Comparative Genomic Hybridization (array-CGH or molecular karyotype) is a molecular cytogenetic technique developed to identify Copy Number Variants (CNVs), such as deletions (loss of genomic portions) and amplifications (presence of extra copies of DNA segments), which may be responsible for malformative syndromes, mental retardation, autism, epilepsy and cancer.
Array-CGH can detect genomic deletions or amplifications with far greater sensitivity (100-1000 times) than can be achieved by conventional chromosome analysis. The Microgenomics laboratory uses high resolution, oligonucleotide-based arrayCGH technique for genomic investigations aimed to identify possible disease causing genomic alterations.
SERVICES
PRENATAL DIAGNOSIS Prenatal array-CGH analysis can detect possible genomic alterations in a fetus. The test uses DNA obtained from amniotic fluid or CVS to investigate the whole genome in a single test. Prenatal array-CGH guarantees a much higher sensitivity allowing to detect CNVs that would go undetected with the conventional karyotyping. Array-CGH does not need cell cultures. This allows a reduction of the analysis turnaround time to 3-5 days.
Microgenomics utilizes different types of array platforms including genomewide arrays, ISCA arrays and the MicrogenChip arrays developed by this laboratory. Both ISCA and MicrogenChip arrays can detect pathogenic imbalances throughout the genome but can also investigate disease-genes with very high resolution, increasing the sensitivity of the test. The MicrogenChip 60K and MicrogenChip 60K CGH+SNP arrays have been specifically designed for the application of molecular karyotype in prenatal diagnosis. These platforms are continuously updated with new disease genes in order to improve the sensitivity of the array-CGH analysis. • MicrogenChip 60K array allows investigation of about 250 genomic regions including telomeres, pericentromeric regions and more than 160 loci associated to congenital malformations and syndromic mental retardation. • MicrogenChip 60K CGH+SNP contains in addition SNP probes to identify uniparental disomies of chromosomes 7, 11, 14, 15, DNA contaminations, polyploidies, chimerisms and low grade mosaicisms.
MICROGENOMICS SRL Via Fratelli Cuzio, 42 C/O Polo Tecnologico di Pavia 27100 Pavia (PV) - Italy Tel. +39 0382 1753184 Fax + 39 0382 1753185 info@microgenomics.it
www.microgenomics.it