Array based techniques

The Comparative genome hybridisation array (CGH-array), also known as molecular karyotype, is a method to identify DNA anomalies such as microdeletion/microduplication not detectable by other conventional cytogenetic techniques. This method has been gradually replacing G-banded karyotyping and fluorescence in situ hybridization (FISH) studies because of a much higher resolution (100-1000 times). The array-CGH analysis is mainly used for postnatal diagnosis of complex phenotypes associated with mental retardation. Molecular karyotype is also used as a second level diagnostic technique in prenatal diagnosis.  However, this technology is quite expensive and is not suitable for detection of inversion, translocation and a low level of mosaicism cells (less than 20%).