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ABSTRACT: The IGENOMIX Carrier Genetic Test consists of of a combined analysis of 600 Mendelian diseases by means of Next Generation Sequencing technology (NGS). The objective of CGT is to predict the genetic risk of having a child with a genetic disease by detecting the Carrier status of both members of a couple willing to conceive. CGT can be applied before attempting a pregnancy by natural means or by assisted reproduction treatment, but also before treatment with donor sperm or eggs.
NGS-based expanded CGT analysis constitutes a powerful tool to predict risk for Mendelian diseases, and coupled with the Echo system, it makes the test more affordable and widely available to a higher number of patients.