Chromosomal detection

Affymetrix has released its Cytogenetic Solution, combining the high-density SNP array 6.0 with a simple assay and intuitive software that provides cytogeneticists with an accurate method of detecting chromosomal abnormalities associated with congenital diseases such as autism and mental retardation.

Studies are performed to identify structural changes in DNA, such as copy number changes. Individuals typically have two copies of the genome in each of their cells: one inherited from the mother and one inherited from the father. Chromosomal abnormalities are common in several disease states such as: deletions — when one or both copies of a particular chromosome region are lost; gains — when a chromosome or chromosomal region is duplicated or multiplied; uniparental disomies (UPDs) — when two copies of a chromosome or chromosomal region are present, but both have been inherited from a single parent.

The system is designed to discover more causative aberrations across the entire genome compared to other microarray platforms and traditional karyotyping techniques. The solution delivers copy number and loss of heterozygosity information, enabling researchers to identify uniparental disomies — genetic abnormalities that are frequent in many congenital diseases.

The solution includes: high-density SNP array 6.0 — detects both submicroscopic and large chromosomal abnormalities with clear definition of breakpoints; simple and robust cytogenetics copy number assay — offers flexibility for low- and high-throughput users; genotyping console 2.1 software — makes it easy to move from copy number and LOH data to results.