Indications for Testing

Chromosome Breakage for Fanconi anemia (Postnatal)


Chromosomal breakage studies are performed for patients with a suspected diagnosis of Fanconi anemia (FA), a disorder characterized by pancytopenia, a variety of congenital anomalies, and spontaneous chromosome instability. Symptoms that may include hematologic conditions such as AML and solid tumors, growth retardation, thumb abnormalities and/or radial aplasia, hyperpigmentary skin changes, cardiac, genitourinary, and/or kidney abnormalities.