Constitutional genetic disease diagnosis for the 2020s: Strategies for solving microarray, panel and exome negative cases

Peter L. Nagy, MD, PhD, founder and CMO of Praxis Genomics explains how he uses Saphyr and next-generation sequencing instead of a long list of analytical techniques such as karyotyping, chromosomal microarray, gene and panel sequencing and repeat testing to achieve better and faster results. Dr. Nagy shows many examples of variants detected by Saphyr, including the expansion of a repeat in the DM1 gene that causes Myotonic Dystrophy, a severe muscle disease, and explained that the repeat can be so long that no other technology can provide the sizing accurately. In his study, Saphyr also detected the repeat expansion that causes Fragile X Syndrome. Currently, testing for Fragile X is recommended for all children with intellectual disability and requires a separate test, while Saphyr measures this repeat on all samples.