Exome Sequencing and Rare Disease Testing

Patients living with rare disease are not “rare” collectively and the time to a diagnosis can take years. Confirming the genetic cause of a condition not only ends the search for a diagnosis, it also opens the door to specialized management, treatment, and risk assessment for a patient and their family.

As the first lab to offer clinical grade, CLIA-approved exome sequencing, Ambry has a trusted history in clinical diagnostics and a focus on novel findings. Our approach relies upon a rigorous evidence base and expertise to help you identify undiagnosed patients in your practice.

We strive to offer results that minimize ambiguity and uncertainty — standing behind our work with service and support, to ensure that the testing you choose yields clear, actionable insights to guide complex decisions in patient care. Our Patient for Life program provides continuous, expert-led reanalysis of exome sequencing data, proactively updating reports as new scientific discoveries are made, indefinitely, at no additional cost.