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.
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.
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.
Chromosomal Microarray, Prenatal, Amniotic Fluid/Chorionic Villus Sampling is a high-resolution method for detecting copy number changes (gains or losses) across the entire genome in a single assay. Umut Aypar, Ph.D., provides a video overview of this test.