Cytogeneticists must consult many resources for specific chromosome segregation patterns, which is time consuming and often inaccurate. Often the translocation in question and specific breakpoints are difficult to find in literature or online. iGene contains a computer-aided chromosome segregation analysis and report-writing package for use in diagnostic cytogenetic laboratories.
Segregation analysis can be complicated and time consuming when done by hand and Pachytene configurations are historically an inaccurate risk assessment tool. The iGene segregation analysis package was written by a consultant Cytogeneticist and uses algorithms defined by looking at a large sample of live born and prenatal data with imbalanced rearrangements. From this data, a risk figure was derived based on survival to term, allowing a threshold of viability to be defined.
Abnormality databases were extensively searched to find the greatest viable autosomal imbalances for each chromosome arm for both trisomy and monosomy. These imbalances serve as a reference to create threshold of viability, allowing diagnostic labs to have another resource at their fingertips when reporting complex abnormalities. A risk assessment figure is derived for the malsegregants, creating imbalance scores.
These scores can be used as an additional tool when counselling patients with arrangements. Ideograms are also available in the package so that exact breakpoints can be confirmed and referenced. Once breakpoints are confirmed, the software can perform a syndrome search allowing the user to quickly query the web to find all the syndromes linked to the chromosome arms and breakpoints in question. The segregation analysis package is linked to the patient database so that this can always be referenced when the translocation patient is approaching reproductive age.