Molecular cytogenetics involves the combination of molecular biology and cytogenetics. It includes a series of techniques referred to as Comparative Genomic Hybridization (CGH), and Fluorescence In Situ Hybridization (FISH).

Introduced in 1980, FISH bridges classic cytogenetic analysis and molecular diagnostic techniques. This method is useful for diagnostic and prognostic purposes for various cancers, microdeletions, prenatal diagnoses, and confirmation of findings by other methods.

Microarray-based Comparative Genomic Hybridization (array CGH) includes the following methods: Illumina microarray data sheet (4x4), (8x60), (24sure), (array CGH 24), and (sure plus). Array CGHis a significant advance in technology that allows detection of chromosome imbalances, microdeletions and microduplicationsin the entire genome. It is a high resolution technique, provides the most comprehensive analysis of chromosomal structure currently routinely available, andhas replaced conventional chromosome analysis (karyotyping). In fact, array CGH is a significant advance in technology that allows the detection of chromosome imbalances that are too small to be detected by routine karyotyping. The diagnosis rate is increased by using array CGH compared with routine karyotype analysis, especially in cases ofdevelopmental delay, autism, imbalanced congenital abnormalities, physical retardation and intellectual disabilities. In addition, applying array CGH in the Molecular Cytogenetic Division assists classic cytogenetics inthe detection of unknown chromosomal segments and unknown deficiencies in the karyotype as well as recognizing chromosomal markers.

Diagnostic services in this division include prenatal diagnosis (on amniotic fluid and chorionic villus samples), postnatal diagnosis (using blood and tissue samples) and Preimplantation Genetic Screening (PGS).