Chromosome Breakage for Fanconi anemia

Test description

When possible, please notify our laboratory 24-48 hours in advance of sending a sample for this test.

Blood is exposed to Mitomycin C (MMC) and/or Diepoxybutane (DEB) which leads to an increased rate of chromosome breakage in patients with Fanconi anemia (FA). Chromosome breakage after exposure to MMC and/or DEB is diagnostic for FA but cannot determine the Fanconi anemia complementation group. Additional send-out testing would be necessary to determine a specific gene associated with the specific complementation group; there are at least 16 different genes known to be associated with FA.

Test details and complementary testing

Our laboratory currently offers two methods of inducing chromosome breakage in lymphocyte cultures for the diagnosis of Fanconi anemia:  MMC-induced and DEB-induced Breakage Study.