Referred Tests
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
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.
Next-generation sequencing: Examining an often oversimplified and 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.
The latest
One of the biggest misunderstandings about genetic testing is a perception that once a variant is identified and analyzed thoroughly, using all the best tools available, it can be associated with a specific disease or condition. But many mutations are deemed “variants of unknown significance,” meaning there is no reported (or insufficient) evidence as to whether or not they cause disease.
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.
This week's featured chromosomal microarray test in focus is presented by William Sukov, M.D., a pathologist and cancer geneticist at Mayo Clinic. He discusses when this test should be used for patients with renal tumors.
Newborn screening panels that test for a variety of conditions are available in every state; however, test performance and response rate by each state are very different. Mayo Clinic's Biochemical Genetics Laboratory created the Collaborative Laboratory Integrated Reports tool to mitigate the national (and international) problem of false positives and to raise the bar on test performance.
Ann Moyer, M.D., Ph.D. gives an overview of this new test available through Mayo Clinic Laboratories. She discusses when this testing should be ordered, how this testing improves upon other testing approaches, and what clinical action can be taken due to the results of this testing.