Cytogenetic Analysis

Karyotype analysis is a cytogenetic test that identifies numerical and structural chromosomal abnormalities.

Using conventional Giemsa staining techniques, the condensed chromosomes are grouped into G bands for observation. Subsequently, the chromosomes are grouped according to their size, centromere position and banding pattern, and possible aberrations are identified as:

• • Balanced translocations
  • Loss of heterozygosity
  • Aneuploidy
  • Low-frequency mosaicism

The service includes a descriptive report and a minimum of one high quality image of a representative karyotype.

The AGH assay allows characterization of DNA dosage imbalances and loss of heterozygosity (LOH). Hybridization data from a single sample DNA is compared to a series of hybridizations from a database.

Array analysis uses DNA probes immobilized on slides corresponding to defined parts of the genome. DNA isolated from samples is fluorescently labeled and added to these arrays. The resulting fluorescence pattern is measured and compared to a physical control or database.

The service includes a report containing a general description of the array profile, details of any anomalies detected and a description of the analysis performed. The report is accompanied by an image of the genome.