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