Reduce recall rates within newborn screening for congenital adrenal hyperplasia (CAH) by fast and robust
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.
|CAH StripAssay®||4-380||20 tests||
|CAH RealFast™ CNV Assay||7-410||100 rxn||