Investigation
On examination of the blood there is a pancytopaenia.
Analysis of the chromosomes will reveal a high level of breaks and gaps.
The diagnostic test is the DEB challenge test:
- DEB (diepoxybutane) is an alkylating agent
- cells cultured from a patient with Fanconi's anaemia are more sensitive to DEB than control cells
- the test is sensitive and specific but does not distinguish between the five complementation groups
The recent cloning of the genes for FA type A and FA type C means that DNA sequencing will permit diagnosis of over 75% of patients.
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