Needle in a Haystack: Diagnosis of Genetic Mosaicism Driving Somatic Overgrowth

Highly sensitive next-generation sequencing-based assays have driven a rapid expansion of gene-disease associations for a diverse group of segmental overgrowth syndromes. In this CAPcast, Dr. Jonathan Heusel, a pathologist at the Washington University School of Medicine in St. Louis, discusses the medical director’s role in selecting both the appropriate assays and the reference laboratories to ensure high diagnostic yield. Dr. Heusel lead the development of a case-based course on this topic as part of the CAP’s Clinical Pathology Improvement Program—or CPIP: https://capatholo.gy/2xGJxbd.