Array CGH diagnostics
We use an array CGH platform designed by Agilent Technologies with 4x180K DNA microarrays for our routine diagnostic tests. Click here to find the request forms for the tests; these also contain an information sheet for patients and parents. If the diagnosis of a genetic imbalance requires analysis of additional family members - typically parents - we carry out customised qPCR analyses within a few weeks.
With array CGH, a microdeletion or microduplication that cannot be detected using conventional cytogenetic techniques can be identified as the cause in approximately 10% of patients with a cognitive development disorder of unclarified aetiology. The detection rate is highest when there are additional physical abnormalities and/or organ malformations. The resolution of array CGH is currently about 50-100 times greater than conventional chromosome analysis using microscopy.
Prenatal array CGH analysis is carried out following a consultation.