Screening families for RCAD syndrome involves a blood (5-10mL, EDTA tube) or mouth brush sample initially on an affected member. Screening may be considered in families which fulfil any of these criteria:

1. Familial unexplained cystic renal disease with or without a family history of diabetes.
2. Familial glomerulocystic disease with or without diabetes.
3. Familial oligomeganephronia with or without diabetes.
4. Families with male or female genital tract malformations associated with renal abnormalities.