Communiqué

Dr. Dollahite received world-class cancer treatment from a web of health care organizations, including Mayo Clinic in Rochester, Minnesota. Yet she never left New York; most of her treatment occurred in Ithaca. What made that possible was Cayuga Medical Center’s collaborative relationship with Mayo Clinic. Genetic testing at Mayo Clinic Laboratories provided important information about Dr. Dollahite’s cancer.

For community health care providers, owning a laboratory has been likened to shoveling money down a giant drain. Cayuga Medical Center is challenging that narrative. Instead of selling, Cayuga is investing in its lab — which it considers a value center as well as a key part of patient service.

Mayo Clinic's use of enhanced radio-frequency identification technology to track specimens from the clinical setting to the lab reduces the risk of errors and protects valuable — sometime irreplaceable — patient samples.

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.

A massive effort that involved numerous departments and experts, culminated in Mayo Clinic designing, testing and mass-manufacturing a 3D-printed mid-turbinate swab for COVID-19 testing.

Flu season is just now unfolding. But this time, it’s piggy-backed with a pandemic, which threatens to spike with the colder weather as people huddle indoors. Adding to this conundrum is the unsettling fact that, for both COVID-19 and the flu, the symptoms overlap.

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.

Mucopolysaccharidosis type I (MPS I) is a rare genetic disorder that typically presents with progressive multisystem involvement in early childhood. This condition results from the deficiency of the enzyme, alpha-L-iduronidase (IDUA), which is responsible for breaking down complex sugars called glycosaminoglycans (GAGs).

Mayo Clinic’s Biochemical Genetics Laboratory has announced an updated second-tier test to detect Krabbe disease (KD) that uses psychosine (PSY) as a disease marker. The new test method has significantly higher sensitivity to detect this devastating disease in infants and allows identification of KD patients with minimal psychosine elevations.

Matt Millen, ex-pro NFL player, who played on four Super Bowl-winning teams underwent a nearly six-year medical journey in search for answers. Finally, he was diagnosed with amyloidosis using a new testing methodology at Mayo Clinic.

Understanding the difference between benign and malignant adrenal tumors has always been difficult, but the new Urinary Steroid Profile assay will assist with this medical challenge.

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.