In routine diagnostics, we use an array CGH platform from Agilent Technologies with 4x180K DNA microarrays. Here you will find the request forms for the test, which also contain an information sheet for patients and parents. If the analysis of other family members - usually the parents - is required in order to classify a genomic imbalance diagnostically, we carry out customized qPCR analyses within a few weeks.
Using array CGH, a microdeletion or duplication that cannot be detected by conventional cytogenetics can be identified as the cause in around 10% of patients with an intellectual developmental disorder of unknown etiology. The clarification rate is highest when physical abnormalities and/or organ malformations are also present. The resolution of array CGH is currently around 50-100 times higher than that of conventional chromosome analysis using microscopy.
A prenatal array CGH analysis is carried out after consultation.
