RARE DISEASES
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

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.
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.