Our Story

Our Mission

We believe in the power of people working together towards one goal, one purpose. And the power that lies within our walls to make a life-changing difference. We will not stop until human disease is understood.


Identifying an individual’s genetic information is nothing new --- it’s what we do with it that is unique. We believe it’s our responsibility to share all genomic information so that we can accelerate the understanding of human disease. We will only get there by collaborating.

Our Methodology

All diagnostics labs are created equal. Or are they? Not exactly.

We detect large deletions and duplications primarily off of next generation sequencing, using additional methods such as MLPA and arrayCGH for confirmation, and as needed for increased detection. Our methods of detecting deletions and duplications have been validated through extensive research of over 30,000 samples that we analyzed using arrayCGH and NGS. In our research, we identified over 13,000 deletions, duplications, and other structural variants using both methodologies. Our data shows that high quality NGS data can be used to detect these alterations as accurately, if not better, than standalone arrayCGH. We are always optimizing our technology and our detection because at the end of the day, it’s the actionable results we give healthcare providers to better care for their patients that matters most.

Our History

We are a lab with a long history of firsts. First to offer exome services. First and only to participate and lead a study powered to verify when to use confirmation testing for the most accurate results. First to invest in the building of a super lab, ensuring highly accurate test results and increased efficiencies. First to self-fund a platform designed to give away our data in a mission to understand disease better through AmbryShare. But it’s not our ‘firsts’ that set us apart. It’s our mission to put patients and understanding of genetics above all else.

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