Our genetic tests are addressing unmet needs for the accurate diagnosis of diseases that involve large scale genome modifications.
With a resolution ranging from 3 kilobase to 1 megabase, Molecular Combing is well tailored to screening targeted areas of the genome and detecting qualitative and quantitative genomic anomalies such as amplifications, deletions, insertions, repeated arrays and translocations.
Our diagnostics division specializes in the discovery and validation of unique genomic biomarkers to develop novel genetic tests for large genomic rearrangements. We are developing a pipeline of sensitive, reproducible and easy to use genetic tests.
Facio Scapulo Humeral Dystrophy (FSHD) is our first marketed test; launched in Europe by Genomic Vision and in the US through Quest Diagnostics in 2013.