Test Details: Fanconi Anemia is an autosomal recessive disorder characterised by progressive bone marrow failure, developmental anomalies, increased incidence of myelodysplasia (MDS) and predisposition to malignancy, especially Acute Myeloid Leukaemia (AML). Chromosomal breakage study with Mitomycin C is a gold standard for establishing the diagnosis prior to treatment with Bone Marrow Transplantation.