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
Dr. Guenzel, a fellow in Laboratory Genetics and Genomics at Mayo Clinic, is the recipient of this award for his publication “The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.”
With the rise of next generation sequencing (NGS) technology, multigene panel testing is expanding so rapidly that clinical practice is racing to keep pace. And questions within genetic tests have expanded along with it, making definitive answers more challenging to come by. Experts in the Genomics Laboratory in Mayo Clinic's Department of Laboratory Medicine and Pathology work to explain this often misunderstood technology.
PACE / State of CA / State of FL
Originally presented January 14, 2021
This “Specialty Testing” webinar will discuss how hearing loss is diagnosed and how patient outcomes can be improved by genetic testing. Strategies for testing and confirming results will also be reviewed.
Developed with input from clinical specialists, the AudioloGene Hereditary Hearing Loss Panel offers the most comprehensive genetic assessment for hearing loss available today.
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.