Assisting clinical review through a dynamic workflow

Learn how Congenica's sensitive secondary data analysis pipelines helped an adoptive family identify the casual variants behind their 2.5-year old's developmental delay, mild facial dysmorphism (widened distance between the eyes), short stature and small fifth toenails.

"Congenica has demonstrated its diagnostic utility for this case, where the low levels of the variant could have led to a missed diagnosis. It provides reassurance to our clinical team that such patients will not be missed in the future, thanks to Congenica’s accurate and sensitive pipelines.” said Dr. Meriel McEntagart, the lead Clinical Geneticist for this case, from St George’s NHS Hospital Trust.