Overlapping idications

R258 Cytopenia – Fanconi breakage testing indicated should be used instead where testing is based on haematological clinical features • In other cases where testing is based on clinical features, R27 Congenital malformation and dysmorphism syndromes – likely monogenic, R89 Ultra-rare and atypical monogenic disorders or other broad genomic tests should typically be used except where clinical features are strongly suggestive of Fanconi anaemia or Bloom syndrome • Prenatal diagnosis or cascade testing by chromosome breakage testing will be requested via R240 Diagnostic testing for known familial mutation(s)