A Test in Focus
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.
Gessi Bentz Pino, CGS, a Genetic Counselor in the Department of Laboratory Medicine and Pathology at Mayo Clinic, provides an overview of the lysosomal storage disorders screen, when it is appropriate to order this test, what actions the results allow you to take, and how this test improves upon previous approaches.
Using targeted next-generation sequencing to identify lung tumors that may respond to targeted therapies by assessing somatic mutations simultaneously within EGFR, BRAF, KRAS, HRAS, NRAS, ALK, ERBB2 and MET and identifying rearrangements (fusions) involving ALK, ROS1, RET, and NTRK1.
Plasma ceramides are predictors of adverse cardiovascular events resulting from unstable atherosclerotic plaque. Three specific ceramides have been identified as highly linked to cardiovascular disease and insulin resistance: Cer16:0, Cer18:0, and Cer24:1. Jeff Meeusen, Ph.D., provides a video overview of this new test.
Chromosomal Microarray, Prenatal, Amniotic Fluid/Chorionic Villus Sampling is a high-resolution method for detecting copy number changes (gains or losses) across the entire genome in a single assay. Umut Aypar, Ph.D., provides a video overview of this test.
Cytochrome P450 2C19 (encoded by the gene CYP2C19) is a liver enzyme that participates in the activation of the anticoagulant clopidogrel (Plavix) and metabolism of other drugs, such as citalopram. As a result, Clopidrigrel may be less effective in altering platelet activity in those people, who may remain at risk for heart attack, stroke, and cardiovascular death.