Genetics

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.”

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 - 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.

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.

This week's featured chromosomal microarray test in focus is presented by William Sukov, M.D., a pathologist and cancer geneticist at Mayo Clinic. He discusses when this test should be used for patients with renal tumors.