Evaluation of Optical Genome Mapping for the Study of Repeate Expansion Disorders and Complex Constitutional Cases: First Results from Bambino Gesu Children’s Hospital

Bambino Gesù Children’s Hospital
January 26, 2021
 

Dr. Viola Alesi

Dr. Viola Alesi, Bambino Gesù Children’s Hospital, Rome presents a clinical validation study of Saphyr for genetic disease testing. They are validating OGM with Saphyr on 30 samples of children that carry chromosomal rearrangements, copy number variants, repeat expansions or have undiagnosed genetic disorders. She presents multiple cases where Saphyr identified several types of structural variants in the same patient, such as a repeat expansion and a deletion that together caused disease, something they had not been able to do with any other single platform. Dr. Alesi announces the hospital is introducing the assay they developed on Saphyr for routine diagnostic use in the hospital, specifically for patients where standard cytogenetic testing or gene sequencing was unable to make a diagnosis and are currently validating Saphyr for the analysis of pediatric brain tumors.