Skip links

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
CAH RealFast™ CNV Assay
7-410
100 rxn
This website uses cookies to improve your web experience.
View
Drag