Where rare
is common
World-class testing for genetic disorders
Our genetic testing was developed by experienced geneticists, genetic counselors, laboratory scientists, and bioinformaticians. We focus on providing easy-to-understand answers, interpreted by those same experts, who have an intimate understanding of the testing and understand the impact the results have on patient care.
Results that matter
We're dedicated to our patients' health and well-being,
and proud of the outstanding outcomes we achieve.
2,000+
new diagnoses made each year
30+
genetic experts developing testing and interpreting results
150+
quantitative and qualitative biochemical genetic assays performed
24/7
support from Mayo Clinic physicians and scientists
Expertise in analysis and interpretation
Genetic testing generates large amounts of complex data that require a high level of expertise to accurately assess and classify each abnormality detected. Our laboratory directors review thousands of tests each year and are actively involved in the field of genomics, helping create testing standards and shape practice guidelines.
Discovering the unknown
If further studies are necessary to clinically explore potential genetic causes for a patient’s phenotype or to characterize an identified abnormality, we offer an expansive test of exploratory genetic testing, including whole exome sequencing.
Access to Mayo Clinic expertise
Our laboratories operate as an interdisciplinary group of physicians, scientists, genetic counselors and laboratory professionals working in a state-of-the-art environment. This
team provides testing and result interpretation of the highest quality for the diagnosis and clinical care of patients.
Whole exome sequencing for hereditary disorders
Cherisse Marcou, Ph.D., co-director of the Clinical Genomics Laboratory, and Marissa Ellingson, M.S., CGC, laboratory genetic counselor, discuss whole exome sequencing at Mayo Clinic Laboratories. The comprehensive evaluation uses next-generation sequencing to detect for single nucleotide variants, small insertions or deletions, deletion-insertions, and copy number variants in approximately 20,000 genes, enabling precision answers to accurately diagnose, manage, and treat patients with identified inherited disorders.
The latest
In this month's "Hot Topic," Christopher Klein, M.D., and Zhiyv (Neal) Niu, Ph.D., discuss how Mayo Clinic’s neuropathy and neuromuscular gene panels have enhanced patient care.
In this month's "Hot Topic," Linnea Baudhuin, Ph.D., discusses Mayo Clinic Laboratories’ up-to-date gene panel tests for cardiomyopathies and arrhythmias, connective tissue and vascular fragility disorders, dyslipidemias, and congenital heart disease.
Linda Hasadsri, M.D., Ph.D., explains carrier screening at Mayo Clinic Laboratories. Using targeted genotyping, our three focused panels evaluate genes associated with cystic fibrosis, spinal muscular atrophy, and hemoglobinopathies, to provide clear answers on reproductive risks and to guide decision-making.
Cherisse Marcou, Ph.D., and Marissa Ellingson, M.S., CGC, discuss whole exome sequencing (WES) at Mayo Clinic Laboratories. The comprehensive evaluation uses next-generation sequencing to detect for single nucleotide variants, small insertions or deletions, and copy number variants on approximately 20,000 genes, enabling precision answers to accurately diagnose, manage, and treat patients with identified inherited illness.
PACE/State of CA/State of FL - In this "Virtual Lecture," Kevin Halling, M.D., Ph.D., discusses the evolution of clinical laboratory molecular testing over the past 40 years and the types alterations that are detected by solid tumor comprehensive genomic profiling. He also summarizes the clinical utility of solid tumor comprehensive genomic profiling.