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.
Test Utilization in Dermatopathology: Recent Study Offers Appropriate-Use Criteria for 12 Diagnostic Tests, Focusing on Quality of Patient Care, Safety, and Cost
The exponential increase in the number of diagnostic tests available to physicians (in dermatopathology as well as other medical specialties) can be overwhelming, according to a new multi-institutional study co-published in the Journal of Cutaneous Pathology and Journal of the American Academy of Dermatology.
3-D Anatomic Scanning and Modeling: A Technology with Near-Limitless Potential in Pathology Applications
In the fall of 2017, Shayla Polanchek, a recent recipient of a heart transplant at Mayo Clinic in Rochester, Minnesota, returned to campus to review the specimen of her old heart, the one that had been removed from her chest. She had asked to be reunited one last time with the organ that, though flawed, had kept her alive for 38 years.
Autoimmune neurological disorders can often be treated, sometimes with full restoration of function. However, because the symptoms mimic other conditions, autoimmune neurological disorders are frequently misdiagnosed, resulting in an irreversible loss of function.