Description
A chromosomal breakage study is a key diagnostic test for Fanconi anemia (FA), a rare genetic disorder characterized by bone marrow failure and increased cancer risk. The test involves culturing lymphocytes from a blood sample in the presence of clastogenic agents like diepoxybutane (DEB) or mitomycin C (MMC). In FA cells, these agents induce excessive chromosome breaks and rearrangements, which are then analyzed to confirm the diagnosis.
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