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.

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.

PACE/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.

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.

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

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.

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.

Newborn screening panels that test for a variety of conditions are available in every state; however, test performance and response rate by each state are very different. Mayo Clinic's Biochemical Genetics Laboratory created the Collaborative Laboratory Integrated Reports tool to mitigate the national (and international) problem of false positives and to raise the bar on test performance.