These techniques are used to show the presence of submicroscopic chromosomal anomalies (microdeletions / microduplication) in which the resolution of conventional cytogenetic methods is not sufficient. Molecular cytogenetic, the product of the combination of cytogenetic and molecular biology, increases the solubility and diagnostic effectiveness of cytogenetic analysis. It involves the use of various molecular techniques to visualize one or more specific regions of the genome. The main method of molecular cytogenetic is fluorescence in situ hybridization (FISH), and submicroscopic changes in a specific chromosome can be demonstrated using labeled probes. In addition, Array-CGH and Microarray analyzes showing unbalanced copy number changes (losses and gains) on all chromosomes are among the advanced Molecular Cytogenetic methods.
Molecular Cytogenetic Tests in Pentagene Genetics;