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Investigation

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

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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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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