Genetics

In this month's "Hot Topic," Megan Hoenig, M.S., M.P.H., CGC, a licensed and certified genetic counselor with the Division of Laboratory Genetics and Genomics at Mayo Clinic Laboratories, describes the principles and benefits of Familial Variant Targeted Testing (FMTT).

By MCL Education • December 4, 2023

For over two decades, Mayo Clinic has been at the forefront of cardiovascular (CV) genetic testing. The current test menu features 24 different panels that span over 300 genes linked to inherited cardiovascular disorders, many of which are rare and challenging to diagnose. Whereas many labs operate in a “silo” — meaning they take a genetic specimen, test it, and then return a result with limited input — Mayo Clinic takes a much more expansive approach.

By Chris Bahnsen • November 29, 2023

Join Mayo Clinic Laboratories at the National Society of Genetic Counselors (NSGC) Annual Conference. Our interactive booth will be staffed by genetic counselors who can discuss and answer questions about our genetic testing options.

By Carly Mouzes • October 6, 2023

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.

By MCL Education • March 6, 2023

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.

By MCL Education • January 9, 2023

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.

By Robin Huiras-Carlson • November 22, 2022

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.

By Barbara J. Toman • June 14, 2022

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.

By MCL Education • April 20, 2022

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.

By MCL Education • March 7, 2022

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.

By MCL Education • February 23, 2022

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.

By MCL Education • December 16, 2021

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

By MCL Education • June 24, 2021

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.”

By Tracy Will • April 16, 2021