Rare genetic diseases present with a wide range of clinical signs. Their diagnosis is based on the identification of genetic variations.
Before the advent of high-throughput sequencing or massive parallel sequencing, it was only possible to test the exons of one gene at a time; any more was difficult.

As a result, it would have taken several years to identify the variant(s) responsible for a rare genetic disease in the absence of any aetiological clues.

Today, thanks to massive parallel sequencing, and the exome, we are able to study about 93–97% of all medically relevant genes in a single test.

This time saving is invaluable for patient management: test time frames and costs are reduced, and it is therefore possible to enter a concrete diagnostic process that is applicable to the greatest number of patients.

At the end of the analytical and bioinformatics process, biological interpretation is based on an average of
about 20,000 variants for each patient. This medical exome sequencing can be conducted for a large number of indications, including in patients with epilepsy, neuro-developmental disorders, cardiomyopathy, autism, metabolic diseases, etc.
Within the context of investigation of mental retardation, a diagnosis is made in 23 to 35% of cases, thanks to this analysis.

Thanks to its multidisciplinary structure, bringing together medical pathologists, scientists, bioinformaticians, and technicians who are experts in sequencing techniques, Eurofins Biomnis
will be able to offer exome sequencing from next November.

We will be sure to keep you informed very soon of the availability and practical details in connection with this revolutionary tool in clinical diagnosis.

Grégory EGEA
Laure RAYMOND