Rare Disease Diagnosis
in 1 Test
Scientists estimate that are over
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 to a successful diagnosis include:
Improved
disease management
and outcomes
Options for new
therapeutic
treatments
Opportunity
to participate
in clinical trials
Understanding
of potential risks
to family members
Reduced expenses
by avoiding
a long diagnostic
odyssey
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.
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