The identification of large deletions is essential for FA molecular diagnostics since about 40% of pathogenic mutations in the major FA complementation group, FA-A, are caused by large deletions in FANCA. As large deletions have also been demonstrated for FANCI (this study) and FANCN [6], it is plausible that these types of aberrations are present in other FA samples, which were previously unclassified by conventional molecular screening methods. The gene discussed is PALB2; the disease is Friedreich ataxia.