Cyto Dtect screens for as many as 300,000 genetic loci across the genome. It has been designed for the purpose of characterising the genomic deletions and duplications that underpin complex genetic diseases such as schizophrenia and autism. The spacing of the markers across the genome allows for a very fine resolution view of gross chromosomal aberrations and provides a more sensitive approach to chromosome analysis than traditional karyotyping.
Many of these genetic variants have been identified as risk markers for common genetic diseases, while others are probably involved in the development of rare Mendelian diseases. Cyto Dtect can be used to identify regions of the genome that have been deleted, and regions of the genome that have been duplicated. Such regions of genomic differences typically influence congenital genetic diseases and have been associated with predisposition to certain cancers and neuropsychiatric diseases.