Ambry Genetics has introduced a genetic screening test AmbryScreen to identify carriers of some of the most severe and common childhood diseases affecting pan-ethnic populations.
The AmbryScreen test screens for over 90 childhood onset conditions representing only severe or common diseases. The core of the AmbryScreen test is Cystic Fibrosis carrier mutation panel in the marketplace.
The Cystic Fibrosis carrier mutation panel is designed by coupling the public databases of information along with Ambry’s extensive database of over 25,000 patients sequenced in the last decade. Ambry Genetics said that its 100 CF mutation panel includes only well defined disease causing mutations, without containing mild CF mutations like some competing tests.
Steven Keiles, VP and director of Genetic Services, said: “When we saw other companies launch seriously flawed tests, the team of Ambry genetic counselors set out to design a superior test. Our collective decades of experience and real world clinical knowledge created what we think is the best carrier screening test available on the market today.”
Charles Dunlop, CEO of Ambry Genetics, said: “We have been working with the Ob/Gyn community on complicated genetic situations for a decade, and we have a staff of counselors and geneticists to work with physicians and their staff on these types of products.”
Taosheng Huang, medical director, said: “With more direct to consumer type tests coming online, we want to clearly differentiate ourselves from those laboratories. We have the experience, the compliance to regulatory guidelines and laws, and the professional staff and expertise to handle these types of tests adequately.”