Ambry Genetics introduces test to identify carriers of newborn
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
"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
"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.