CAH test strip StripAssay®

geneticbloodDNA analysis

Congenital adrenal hyperplasia (CAH) is an inherited disorder affecting steroid hormone synthesis. The CAH StripAssay® detects the most common point mutations, whereas the CAH RealFast™ CNV Assay identifies copy number variations (CNVs) in the CYP21A2 gene in patients with CAH. For comprehensive genetic analysis both assays should be used in combination. Congenital adrenal hyperplasia (CAH) Severe forms of CAH may cause life-threatening salt-wasting crisis and virilization in newborns. The most frequent forms of CAH are caused by mutations in the CYP21A2 gene encoding for steroid 21-hydroxylase. Disease-causing mutations include single nucleotide variants/point mutations and chromosomal rearrangements such as deletions, duplications and CYP21A1P/CYP21A2 chimeras. Neonatal CAH-screening based on the assessment of 17-hydroxyprogesterone levels has a high false positive rate. Genetic second-tier tests have the potential to significantly reduce recall rates.