The Comprehensive Center for Fanconi Anemia & The Cytogenetic Facility

Fanconi Anemia Testing

Fanconi anemia is characterized by increased sensitivity to DNA damaging agents. The hallmark of Fanconi anemia is the inability to repair DNA damage induced by agents such as mitomycin C (MMC) or diepoxybutane (DEB). This feature can be analyzed by examining the chromosomes of cells treated with MMC or DEB. Fanconi cells exhibit a significant increase in the number of chromosomal crosslinks that can be quantitated by a highly trained cytogeneticist.

Our laboratory continues to do research into the molecular and biochemical
pathways of Fanconi Anemia . This will contribute to developing new screening
tests and  therapies for the Fanconi Patient.  After completion of the DEB test
if you are willing to allow us to use any left over materials for research,
please contact Lisa Moreau @ 617-632-5792.