Reverse-hybridization assay for rapid detection of common CYP21A2 mutations in dried blood spots from newborns with elevated 17-OH progesterone

► We present a fast, genetic test applicable to second-tier CAH newborn screening. ► We developed and validated a reverse-hybridization test strip-based assay. ► This CAH StripAssay detects the 11 most prevalent CYP21A2 mutations. ► Also ~ 50% of large gene deletions/conversions can be identified. ► Only small amounts of DNA extracted from dried blood spots are required.