Genetics

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.

Chromosome analysis, which was once the preferred genetic test for a wide variety of congenital abnormalities, is now one of the most frequently misordered cytogenetic tests at MML. This "Specialty Testing" webinar will outline the differences in technologies and the appropriate use of each test.

In cases of sudden or unexpected death, autopsy evaluation can include a biochemical analysis to identify deaths caused by fatty acid oxidation disorders.