Mayo Clinic Laboratories > BioPharma Diagnostics > Testing > Rare diseases

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.

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.

To learn more about our testing, view our biopharma-specific test catalog and full test catalog.

Test menu

Autoimmune neurology Autoimmune neurology
Autoimmune neurology

Covering the spectrum of autoimmune neurological disorders, our evaluations apply a phenotype-specific approach to diagnose and guide treatment for patients affected by immune-mediated neurological illness.

Biochemical testing Biochemical testing
Biochemical testing

In cases of uncertain genetic findings, biochemical neuromuscular testing can be helpful. Correlating biochemical laboratory results with the clinical presentation and other test results can confirm suspicion of disease presence.

Chromosomal mircroarray Chromosomal mircroarray
Chromosomal mircroarray

Every chromosomal microarray test performed at Mayo Clinic is supported by the experience and expertise of our laboratory directors and genetic counselors, ensuring we not only provide test results but clinically actionable interpretations.

FISH testing FISH testing
FISH testing

Our approach to fluorescence in situ hybridization (FISH) testing was designed to simplify the ordering process and provide appropriate testing to meet individual patient needs.

Comprehensive disease testing

A collaboration with BioPharma Diagnostics includes access to the rare diseases testing capabilities of Mayo Clinic Laboratories, including: 

  • 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
News and updates

The latest

Unique collaboration advances discoveries for rare disease

The nonprofit patient advocacy group called The MOG Project supports patients with myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD), which is a rare and debilitating central nervous system demyelinating disorder. A team of Mayo Clinic neurologists, neuro-ophthalmologists, and the Autoimmune Neurology Laboratory at Mayo Clinic share a unique relationship with The MOG Project as they harness the power of patients’ experiences with MOGAD and their biospecimen data to advance the science behind this disease.

Learn more
Database of unsolved patient sequencing results yields new answers

Mayo Clinic launched an automated system called RENEW — reanalysis of negative whole-exome/genome data — in 2022 that tracks newly published discoveries of disease-causing genetic variants. Every three months, the system automatically uploads these new scientific findings from around the world, which are then compared to the Mayo Clinic Center for Individualized Medicine’s database of unsolved patient sequencing results. This comparison helps to identify potentially significant developments that could lead to a new diagnosis for a patient with a rare genetic disorder.

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