Diagnose Rare Diseases

There are over 5000 rare genetic diseases that affect over 350 million people around the world.  Patients and their families often go through a frustrating odyssey that can force them to visit dozens of different medical specialists without finding an answer to even their most basic questions. 

Delays in diagnosis can lead to disease progression and inappropriate and deleterious interventions for therapy and care.

With deep domain knowledge and years of experience successfully pinpointing the genetic cause of thousands of rare diseases, Breakthrough Genomics offers free consultation and full service molecular diagnosis for even the most difficult cases.  

Choose between Clinical Whole Exome or Whole Genome Sequencing and receive your diagnosis within 3 weeks.  All tests are performed by a U.S. CLIA-certified lab and clinical reports returned to patients are all reviewed and signed by a U.S. Board-Certified Medical Geneticist.

Please Inquire info@btgenomics.com to get started.

Rare Disease Breakthrough Genomics