Clinical Diagnostics

We are a recognized worldwide industry leader in diagnostic solutions for hereditary conditions, offering a unique combination of robust expertise, quality services, and unmatched personalized support.

While we began as the first laboratory to offer clinical full gene sequencing for CFTR (the gene associated with cystic fibrosis), our menu has substantially expanded since our founding in 1999. It is highly relevant to many medical specialties. Since 2001, we have performed hundreds of thousands of genetic tests and identified more than 45,000 mutations in greater than 500 different genes. We were also the first laboratory in the world to offer clinical exome sequencing for diagnostic purposes, and this has allowed us to expertly build from this deep knowledge base.

What sets us apart from others is more than just our testing. We recognize the human element in every step of the process. Board-certified genetic counselors, laboratory directors, and medical directors are readily available to assist with test selection, case reviews, and result interpretation. Whether it’s confirming insurance benefits, explaining testing options, or interpreting test results -- we offer unparalleled genetic expertise to clinicians and families across the world.