Armed with experience in the use of ES for diagnosing Bourgogne patients with rare diseases, FHU TRANSLAD sought to offer clinical ES for the diagnosis of developmental disorders to all patients in France. And so, in January 2015 OrphanOmix, the spin-off came into being.
This organisation, established in collaboration with SATT Grand-Est, is one of the few organisations in France to offer diagnostic exome analysis from blood sample to result. While positive diagnoses are sent back to the referring clinician, a research analysis of the sequencing data is always proposed and performed by the UMR 1231 GAD research team.
Orphanomix is at present still the only academic organisation in France offering an ES diagnostic service to all of the genetic centres in France and in the Overseas Departments and Territories.
Orphanomix also offers specialised bioinformatics support to establishments wishing to develop diagnostic or research-based HTS relative to rare diseases.