In St. Pete, next gen solution for hereditary disease diagnostics ready for rollout

St. Petersburg?s Sequoia Genetics has completed the development of its flagship solution to diagnose the newborns? hereditary diseases and says it?s ready to bring the new test system to market

Sequoia Genetics, a subsidiary of St. Petersburg?s Alkor Bio, has completed the development of its flagship solution to diagnose the newborns? hereditary diseases and says it?s ready to bring the new test system to market, Sequoia?s parent company announced. The molecular-genetics diagnostic solution called VariFind Neonatal Assay, is based on Alkor?s next gen sequencing (NGS) technology and consists of a set of reagents, protocols, and specialized software. The method has been designed to diagnose three inborn disorders of metabolism, including cystic fibrosis, phenylketonuria, and galactosemia. At the moment, the new test system is said to be able to pinpoint more than 360 clinically essential mutations that the three genes responsible for these disorders might have on the human body. Neonatal testing for these diseases is recommended by the World Health Organization (WHO) and is mandatory in the Russian Federation and most developed countries as part of governmental screening programs...