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ViennaLab/Congenital adrenal hyperplasia (CAH)/20 tests/4-380

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.

ProductREFUnit SizeIFUBrochure
CAH StripAssay®4-38020 tests

PDF

PDF

CAH RealFast™ CNV Assay7-410100 rxn

PDF

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