CGH Array LAB

The Comparative Genomic Hybridization-array (CGH-array) Laboratory uses a molecular screening method that allows the identification of quantitative alterations present in the entire genome with a single test. The main advantage lies in the high resolution compared to conventional cytogenetics and in the possibility of identifying variations in the number of copies of even small-sized DNA regions.

Through an accurate definition of the altered genomic region it is possible to define the genes contained in it and contribute significantly to the understanding of the relationships between genetic anomalies and the pathologies of the examined patients. For this survey we use different high resolution analytical platforms in order to identify genomic alterations in patients suffering from neurological disorders and other chromosomal anomalies.

The CGH-Array diagnostics was activated in December 2012. To date over 1000 investigations have been carried out in patients with suspected diagnostics of:

• mental disability;
• psychomotor retardation;
• development delay;
• relational disorders;
• attention deficit and hyperactivity disorder;
• autism spectrum disorders;
• pathologies with suspected genetic origin.

In about 30% of the analyzed patients chromosomal alterations with uncertain clinical significance (to be evaluated with other investigations) have been identified; in 10% of the analyzed patients chromosomal alterations with pathogenetic significance, associated or causative of the clinical picture of the patient have been identified.

In the field of genomic diagnostics, future perspectives are to improve the characterization of patients with complex genetic syndromes and the diagnosis of oncological, solid and hematological diseases. In addition, to improve patient characterization and increase diagnostic sensitivity, we propose to integrate this method with NGS sequencing of panels of genes involved in the neurological pathologies described.