The ES performed in our laboratory is part of a generic treatment path involving biological analysis for patients with a rare genetic disease (cf. Figure). Requests for this come from Dijon University Hospital as well as from all over France via Orphanomix.
The genome-wide HTS test is a dynamic one which we have demonstrated to be of major clinical relevance for potential repeat data analyses vis-à-vis rare diseases. A repeat analysis procedure is arranged solely at the request of the clinician who has seen the patient.
With the current arrangement, UF6254 can perform one ES test per 500 patients per year for all of the genetic centres in France. In 2017, an ES result was obtained for 351 patients, with a positive molecular diagnosis for 101 patients (29%) (cf. table).