SienaGenTest is rooted in the expertise gained from years of research in the field of medical genetics.
The founding team includes doctors, biologists, bioengineers, and computer scientists. It is this combination of knowledge that allows us to better interpret the information contained in sequencing experiments.
We already analyzed over a thousand WES. Type of diseases for which WES was analyzed included: Intellectual disability both aspecific and syndromic including Rett syndrome, Alport syndrome and other nephropaties, cancer syndromes, different types of additional rare genetic disorders. The percentage of positive cases in rare disorders was around 60%.
Other type of expertise is the assessment and validation of workflow in clinical laboratory from output of Next generation sequencing machines to report generation ready for final client.