Scientists estimate that are over 150 million people gobally that suffer from rare genetic diseases, with a vast majority being undiagnosed.

Through our WGS and WES Genetic Testing, Breakthrough Genomics provides world-class analysis to help pinpont the roughly 5600 rare genetic diseases that scientists have so far identified.

With fast turnaround times, high diagnostic yields, and decades of experience in the field of rare disease diagnosis, Breakthrough Genomics offers patients of all ages a chance to end their diagnostic odyssey.

Benefits of a successful diagnosis include:

disease management
and outcomes

Options for new

to participate
in clinical trials

of potential risks
to family members

Reduced expenses
by avoiding
a long diagnostic

All of the genetic tests for rare diseases offered by Breakthrough Genomics are individually reviewed by a Board-certified Medical Geneticist and are delivered to providers in clear, easy-to-understand clinical reports.