P198: Precision molecular diagnosis and treatment of vascular anomalies via ultra-deep genomic sequencing of affected tissue and a multidisciplinary care model

Several molecular mechanisms have been identified in vascular anomalies (VAs); however, a precision diagnosis remains elusive for many patients. Multidisciplinary clinics are not standard of care for VAs nor has the acquisition of VA tissue for genetic testing historically been routine in clinical practice. Moreover, typical molecular diagnostic methods may not reliably detect the low-level somatic mosaicism relevant for many VAs. This investigation demonstrates that ultra-deep sequencing of VA affected tissue or other appropriate sample types increases the yield of precision molecular diagnosis in a large cohort of patients from a multidisciplinary clinic and enables individualized treatment in some cases.