Rare Diseases

Precision evaluations for actionable answers

For the tens of millions of Americans affected by rare disease, accurate, timely, and cost-effective testing is vitally important for diagnosis, prognosis, and disease management. With more than 90% of the 7,000 identified rare diseases lacking FDA-approved treatment,1 and patients waiting between 8 and 10 years before diagnosis, clinical trial testing is essential to propel new technologies and therapeutic discoveries.

Mayo Clinic BioPharma Diagnostics partners receive access to Mayo Clinic Laboratories' rare disease test offerings, which were developed by a multidisciplinary team of experts who understand the intricacies of evaluating for rare illness. Our assays employ a spectrum of advanced methods, including next-generation sequencing and targeted antibody evaluations, to identify and provide insights on rare illness, enabling answers that propel solutions.

Our rare disease testing laboratories:

  • Clinical Mass Spectrometry Laboratory
  • Neuroimmunology Laboratory
  • Molecular Technologies Laboratory
  • Clinical Immunoassay Laboratory
  • Autoimmune Neurology Testing Laboratory
  • Biochemical Genetics Laboratory
  • Clinical Genome Sequencing Laboratory
  • Microarray Laboratory

Highlighted technologies

  • Next-generation sequencing
  • Single gene analysis (FISH and PCR testing)
  • Advanced molecular testing
  • Antibody testing
  • Mass spectrometry

Learn more about how we can work together.


1. National Organization for Rare Disorders: New Study Investigates the Number of Available Orphan Products, Generics and Biosimilars