Ambry Genetics introduces test to identify carriers of newborn genetic disorders

14 June 2010

Ambry Genetics has launched AmbryScreen, a genetic screening test used to identify carriers of some of the most severe and common childhood diseases affecting pan-ethnic populations.

Designed by a team of geneticists and genetic counsellors with decades of clinical and laboratory experience, the panel is a responsible and ethical means of identifying individuals at high risks to have a child with severe genetic conditions. As with all clinical assays performed by Ambry Genetics, the test must be ordered by a doctor. It is not available direct to consumer.

The test screens for over 90 childhood onset conditions representing only severe or common diseases. The core of the test is the most sensitive Cystic Fibrosis carrier mutation panel in the marketplace. It was designed by coupling the public databases of information along with Ambry's extensive database of over 25,000 patients sequenced in the last decade. Our 100 CF mutation panel includes only well defined disease causing mutations, without containing mild CF mutations like some competing tests.

"Ambry Genetics was founded on the idea of a comprehensive carrier test and now new technologies have enabled us to create a test that makes sense for patients and for physicians. When we saw other companies launch seriously flawed tests, the team of Ambry genetic counsellors 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." said Steven Keiles, VP and Director of Genetic Services.

"Ambry Genetics is very well suited to offer this type of test. We have been working with the Ob/Gyn community on complicated genetic situations for a decade, and we have a staff of counsellors and geneticists to work with physicians and their staff on these types of products" said Charles Dunlop, Chief Executive Officer of Ambry Genetics.

"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." Taosheng Huang MD, PhD, FACMG, Medical Director.

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