The advent of new, high-throughput sequencing techniques opens up many opportunities in the field of constitutional genetic disorders (rare diseases) and acquired genetic disorders (cancer). By rapidly deciphering an individual’s complete DNA and thus generating a wealth of information on genetic heritage, the NGS technique ultimately makes it possible to make a diagnosis, to determine the risk of predisposition to certain diseases, or even to predict the efficacy of a drug treatment (personalized medicine).

Eurofins Biomnis, the European leader in specialized medical pathology, has been an expert in NGS for several years and conducts the technique on a daily basis, in particular in the field of non-invasive prenatal testing for Down’s syndrome, Edwards’ syndrome and Patau syndrome (NIPT).

Thanks to this technological mastery, Eurofins Biomnis is the first private medical pathology laboratory in France to offer clinical exome (sequencing & medical interpretation), an innovative and accurate tool in clinical diagnostics, particularly in the field of intellectual disability.

Press release (08 november 2016)