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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.

Products

Name REF Unit Size IFU Brochure
CAH StripAssay® 4-380 20 tests
PDF

PDF
CAH RealFast™ CNV Assay 7-410 100 rxn
PDF

PDF
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