Researchers at Mayo Clinic have discovered a second-tier test for Pompe disease that has been shown to improve the specificity of newborn screening for the disorder, which would lower the rate of false-positive results.
Originally presented November 8, 2017
The “Specialty Testing” webinar will briefly cover the current knowledge concerning the molecular genetic classification of adult gliomas.
Hutton Kearney, Ph.D., Consultant of Hereditary Genomics Laboratory in the Division of Laboratory Genetics and Genomics at Mayo Clinic, participated in an interview with Frontline Genomics Magazine to discuss cytogenetics.
On the October 28 broadcast of Mayo Clinic Radio, Myra Wick, M.D., Ph.D., Consultant in the Division of Laboratory Genetics and Genomics at Mayo Clinic, explains the latest advances in prenatal screening.
Ann Moyer, M.D., Ph.D., discusses an additional gene, NUDT15, which is important in the prediction of thiopurine-related toxicity This gene has been added to our TPMT genotyping assay available through Mayo Medical Laboratories.
Devin Oglesbee, Ph.D., Director of the Biochemical and Molecular Genetics Laboratories at Mayo Clinic, provides an overview of the lysosomal storage disease panel, when it is appropriate to order this test, what actions the results allow you to take, and how this test improves upon previous approaches.
Gessi Bentz Pino, CGS, a Genetic Counselor in the Department of Laboratory Medicine and Pathology at Mayo Clinic, provides an overview of the lysosomal storage disorders screen, when it is appropriate to order this test, what actions the results allow you to take, and how this test improves upon previous approaches.
A recent Huff Post article, authored by the Mayo Clinic Center for Individualized Medicine, highlights three genetics tests to improve prenatal screening, including Mayo Medical Laboratories’ cell-free DNA prenatal screen.
Newborn screening panels (that test for a variety of conditions) are available in every state; however, test performance and response rate by each state is 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.
Mayo Clinic has launched a first-of-its-kind clinical test that will be used to help patients who may be at a diagnostic “dead end” with other genetic testing. The mate-pair sequencing test can identify chromosome alterations or “breakpoints” involved in chromosome rearrangements, pinpointing the precise genes involved.