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.
Using advanced technology, scientists at Chan Zuckerberg (CZ) Biohub, Mayo Clinic and University of California, San Francisco (UCSF), have discovered an autoimmune disease that appears to affect men with testicular cancer.
Mayo Clinic Laboratories is the only laboratory in the world to offer testing for a novel form of autoimmune meningoencephalomyelitis. Known as autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy, the condition was identified by Mayo Clinic in 2016. The GFAP antibody test is offered as part of Mayo Clinic Laboratories’ encephalitis and myelopathy evaluations.
Mayo Clinic Laboratories is one of the few laboratories in the country to offer two special sequencing-based tests for bacteria in its catalog. The first test is designed to help protect patients by investigating potential outbreaks of a single bacterial species or by identifying recurrent infections in an individual patient. The second has the ability to detect DNA of any bacteria to help identify the cause of an infection.