Surrey Lea F, Church Alanna J, Nelson Nya D
Perelman School of Medicine, University of Pennsylvania, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia.
Laboratory for Molecular Pediatric Pathology (LaMPP), Harvard Medical School, Department of Pathology, Boston Children's Hospital.
Surg Pathol Clin. 2025 Jun;18(2):407-417. doi: 10.1016/j.path.2024.11.007. Epub 2024 Dec 3.
Molecular diagnostics are rapidly evolving to support the diagnosis, prognosis, and treatment of pediatric disease. This article summarizes the recent clinically relevant technology advances and their application to constitutional, mosaic, and somatic disorders. The pathologist's role in selecting adequate tissue for genomic testing is also discussed with a review of common pitfalls.
分子诊断技术正在迅速发展，以支持儿科疾病的诊断、预后评估和治疗。本文总结了近期与临床相关的技术进展及其在先天性、嵌合性和体细胞疾病中的应用。还讨论了病理学家在选择合适组织进行基因组检测方面的作用，并回顾了常见的陷阱。
