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 individuals 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




504

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 abnomailty detected. Our laboratory directors review thousands of tests each year and are actively involved in the field of genomic, 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.


Next-Generation Sequencing: Examining an Often Oversimplified & Misunderstood Technology–Part I


In the last decade or so, genetic testing has evolved from single-gene Sanger based assays to much more complex next-generation sequencing (NGS) based assays. This incredible technology has facilitated the rapid and high-throughput evaluation of many genes (hundreds of thousands of DNA strands) all at once

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