Genetics

In this month's "Hot Topic," Christopher Klein, M.D., and Zhiyv (Neal) Niu, Ph.D., discuss how Mayo Clinic’s neuropathy and neuromuscular gene panels have enhanced patient care.

In this month's "Hot Topic," Linnea Baudhuin, Ph.D., discusses Mayo Clinic Laboratories’ up-to-date gene panel tests for cardiomyopathies and arrhythmias, connective tissue and vascular fragility disorders, dyslipidemias, and congenital heart disease.

Linda Hasadsri, M.D., Ph.D., explains carrier screening at Mayo Clinic Laboratories. Using targeted genotyping, our three focused panels evaluate genes associated with cystic fibrosis, spinal muscular atrophy, and hemoglobinopathies, to provide clear answers on reproductive risks and to guide decision-making.

Cherisse Marcou, Ph.D., and Marissa Ellingson, M.S., CGC, discuss whole exome sequencing (WES) at Mayo Clinic Laboratories. The comprehensive evaluation uses next-generation sequencing to detect for single nucleotide variants, small insertions or deletions, and copy number variants on approximately 20,000 genes, enabling precision answers to accurately diagnose, manage, and treat patients with identified inherited illness.

PACE/State of CA/State of FL - In this "Virtual Lecture," Kevin Halling, M.D., Ph.D., discusses the evolution of clinical laboratory molecular testing over the past 40 years and the types alterations that are detected by solid tumor comprehensive genomic profiling. He also summarizes the clinical utility of solid tumor comprehensive genomic profiling.

In this month's "Hot Topic," Paul Jannetto, Ph.D., identifies how to determine new vs. residual use of marijuana in a patient, and teaches how to calculate the carboxy-tetrahydrocannabinol (carboxy-THC) to creatinine ratio along with a decision ratio by demonstrating its clinical utility via case study.

PACE/State of CA/State of FL - In this month’s “Virtual Lecture,” Eva Morava-Kozicz, M.D., Ph.D., discusses one of the most important post-translational modifications that happen in our bodies, glycosylation. More specifically, she focuses on congenital disorders of glycosylation.

PACE/State of CA/State of FL - In this month’s “Virtual Lecture,” Victor Karpyak, M.D., Ph.D., discusses the burden of alcohol use disorders (AUD) on society compared to other neuropsychiatric disorders and reviews the progress of biomarker discovery.

This is a 6-part series describing the products and clinical tools of a laboratory quality improvement project called Region 4 Stork, or R4S.

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.”

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.

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.

Developed with input from clinical specialists, the AudioloGene Hereditary Hearing Loss Panel offers the most comprehensive genetic assessment for hearing loss available today.