Genetics

Robin Huiras-Carlson's connection with Mayo Clinic traces back to her early years, marked by a diagnosis of a rare genetic condition at the age of 10. Today, as a senior marketing specialist with Mayo Clinic Laboratories, she draws inspiration and purpose from this personal journey to illuminate Mayo’s positive impact on patients and ongoing evolution in diagnostics.

Multiple doctors and multiple examinations could not figure out why Lauri Sieben had spent much of her life “never feeling quite right” physically. Fortunately for Lauri, that changed after her daughter Christy began working as a genetic counselor in Mayo Clinic’s Molecular Technologies Laboratory. After seeing similarities between the patient testing she was performing for the lab and the physical symptoms being experienced by her mom, Christy took a leading role in getting Lauri to undergo molecular and biochemical testing at Mayo Clinic. The results of that testing not only provided much-needed answers, but a promising path forward for Lauri.

Linnea Baudhuin, Ph.D., and Kate Kotzer, M.S., CGC, describe how Mayo Clinic Laboratories' postmortem genetic tests can provide answers after a sudden unexplained cardiac death. Test results are important for managing family members' risk for cardiovascular disease.

In this month's "Hot Topic," Nicole Boczek, Ph.D., assistant professor and laboratory director in the Department of Laboratory Medicine and Pathology, and Sarah Barnett, M.S., CGC, discuss diagnostic exploratory testing, explain why it’s important to the field of many specialty practice areas, and help determine which testing may be the most valuable for a given patient.

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).

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.

VEXAS syndrome is a severe autoinflammatory disease that results in a spectrum of rheumatologic and hematologic conditions. The underlying cause of newly identified VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome — somatic mutations in the UBA1 gene of blood cells — was discovered at the National Institutes of Health (NIH) in 2020. Within six months, Mayo Clinic Laboratories was able to add a UBA1 test to the MayoComplete panel, as the team simultaneously worked on a single gene assay to allow doctors to test specifically for UBA1 mutations to screen patients for VEXAS syndrome. The team opted for a droplet digital PCR test — a novel and highly accurate approach to testing for UBA1 gene mutations.

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.

Nicole Boczek, Ph.D., and Sarah Barnett, M.S., CGC, explain how Mayo Clinic Laboratories' whole genome sequencing provides comprehensive information for rapid diagnosis of hereditary disorders.

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.

Before testing at Mayo Clinic Laboratories, Barbara Domaille, Deborah Neville, Pamela Neville, and Rylie Ronnenberg thought there could be a genetic connection to the hip problems they shared. After the testing, they knew for sure.