Fanconi anemia diagnostic study of choice
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Shyam Patel [2]
Overview
Fanconi anemia is currently classified by complementation group.
Diagnostic study of choice
There are two diagnostic studies of choice for Fanconi anemia:
- Chromosomal breakage analysis: Analysis of DNA susceptibility to DNA-damaging agents has been the traditional diagnostic study of choice for Fanconi anemia for many years. This assay is based on the idea that agents such as diepoxybutane and mitomycin C can create disruptions in chromosomes of cells that have impaired DNA damage response.[1] In patients with Fanconi anemia, their cells demonstrate hypersensitivity to these DNA-damaging agents because the cells already harbor mutation in genes (like FANC family genes) which normally allow for correction of DNA damage.
- Methods: In the chromosomal breakage test, peripheral blood lymphocytes are isolated then stimulated with phytohemagglutinin (PHA) for 24 hours. Cells are then treated with either diepoxybutane or mitomycin C for 48 hours. Aberrant metaphases are visualized via microscopy, with specific attention to chromosome breaks or radial chromosomes.[1]
- Mutational analysis:
References
- ↑ 1.0 1.1 Antonio Casado J, Callén E, Jacome A, Río P, Castella M, Lobitz S; et al. (2007). "A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network". J Med Genet. 44 (4): 241–9. doi:10.1136/jmg.2006.044719. PMC 2598052. PMID 17105750.