Table 1 Potential benefits of identifying novel disease-causing mutations in kidney disease

• Achieving a diagnosis

• Precise identification of the molecular defect for genotype/phenotype correlations

• Accurate genetic counselling and, where appropriate, subsequent prenatal testing

• Accurate cascade testing to identify risks to other relatives

• Enhanced gene lists for future diagnostic testing

• Elucidation of new genetic conditions/syndromes, improving diagnosis in further individuals

• Improved understanding of the molecular pathology, leading to the development of more effective therapies