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.