| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
For more than 50 years, Mayo Clinic Laboratories has been providing meaningful results to individuals seeking genetic answers. Rare genetic disorders can be among the most difficult conditions to diagnose. To provide meaningful answers, our genetic testing is developed and supported by an integrated team of clinical, genetic, and laboratory experts and uses precision technologies to reveal variations related to diagnosis and treatment. Built around a tradition of placing patients’ needs first, our testing generates personalized insights to elevate understanding of a patient’s condition.
“We understand supplemental assays come with additional cost and effort, but our commitment to providing complete and accurate results for our patients motivates us to go beyond standard lab testing processes.”
Wei Shen, Ph.D., associate director of the Clinical Genome Sequencing Laboratory at Mayo Clinic.
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For many, the path to a correct diagnosis can be long and filled with uncertainty. This story highlights the resilience and determination of one patient who navigated a complex medical journey to find answers and hope at Mayo Clinic. The patient asked to remain anonymous for personal privacy reasons.
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.
Dietrich Matern, M.D., Ph.D., Division Chair of Laboratory Genetics in the Department of Laboratory Medicine and Pathology in Rochester, Minnesota, has been appointed as a new director on the board of the American College of Medical Genetics and Genomics (ACMG).
Pharmacogenomic testing is still limited, despite ample research, the existence of guidelines, and the emerging evidence it can help patients. Ann Moyer, M.D., Ph.D., Co-Director of the Personalized Genomics Laboratory at Mayo Clinic in Rochester, Minnesota, makes a case for pharmacogenomics.
Researchers at Mayo Clinic have discovered a second-tier test for Pompe disease that has been shown to improve the specificity of newborn screening for the disorder, which would lower the rate of false-positive results.
Ann Moyer, M.D., Ph.D., discusses an additional gene, NUDT15, which is important in the prediction of thiopurine-related toxicity This gene has been added to our TPMT genotyping assay available through Mayo Medical Laboratories.
Devin Oglesbee, Ph.D., Director of the Biochemical and Molecular Genetics Laboratories at Mayo Clinic, provides an overview of the lysosomal storage disease panel, when it is appropriate to order this test, what actions the results allow you to take, and how this test improves upon previous approaches.
Detection of individuals with low thiopurine methyltransferase (TPMT) activity who are at risk for excessive myelosuppression or severe hematopoietic toxicity when taking thiopurine drugs.
In cases of sudden or unexpected death, autopsy evaluation can include a biochemical analysis to identify deaths caused by fatty acid oxidation disorders.