We are the experts in rare hereditary diseases. We know the genetic basis and the clinical phenotype of genetic disorders inside-out. Our platform is based on the world’s largest curated mutation database for rare diseases. We have an unrivaled global diagnostic footprint, and an unmatched ability to derive diagnostic solutions to accurately identify rare disease patients and accelerate the path to approval for new orphan drugs.
Our goal is the rapid medical diagnosis of inherited diseases, provided at the earliest possible moment as we turn analytical information into actionable results for physicians, patients and pharmaceutical partners. Our commitment to the global medical c
