Certified Pediatric Hematology Oncology Nurse (CPHON) Practice Exam 2026 - Free CPHON Practice Questions and Study Guide

Chromosome break analysis is a specialized diagnostic test used to evaluate chromosomal stability and identify chromosomal breakage, particularly in patients suspected of having Fanconi Anemia. This condition is characterized by increased sensitivity to DNA crosslinking agents, leading to an accumulation of chromosomal breaks.

During this test, patient cells, usually lymphocytes, are exposed to agents such as diepoxybutane (DEB) or mitomycin C, which induce DNA damage. Subsequently, the cells are processed, and the chromosomes are examined for the presence and frequency of breaks. A higher than normal level of chromosomal breaks indicates the presence of Fanconi Anemia.

Other diagnostic methods, while important in various contexts of genetics or hematology, do not specifically assess chromosomal breakage in the way that chromosome break analysis does. Chromosome spread analysis, cytogenetics analysis, and fluorescent in situ hybridization focus on different aspects of chromosome structure and may not provide the crucial information needed for diagnosing Fanconi Anemia. Therefore, chromosome break analysis is the definitive test for assessing chromosomal breakage associated with this genetic disorder.