DIAGNOSTICS THROUGH MICROARRAY
POSTNATAL 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
POSTNATAL DIAGNOSIS Nowadays molecular karyotyping is considered a first-tier diagnostic test for individuals with unexplained mental retardation, developmental delay, autism spectrum disorders, epilepsy or multiple congenital anomalies. It has been demonstrated that molecular karyotype guarantees a much higher diagnostic yield (15%-20%) than conventional karyotype (~3%).
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 180K and MicrogenChip 180K CGH+SNP arrays have been specifically designed for the application of molecular karyotype in postnatal diagnosis. These platforms are continuously updated with new disease genes in order to improve the sensitivity of the array-CGH analysis. • MicrogenChip 180K array allows investigation at high resolution of about 500 genomic regions, including telomeric and pericentromeric regions and more than 390 loci associated with congenital malformations and syndromic mental retardation. • MicrogenChip 180K CGH+SNP array contains SNP probes that allow to identify uniparental disomies, LOH 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