CAH test strip 4-380
geneticbloodDNA analysis

CAH test strip
CAH test strip
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Characteristics

Applications
CAH
Tested parameter
genetic
Sample type
blood
Analysis mode
DNA analysis

Description

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. Minimize risks with early and reliable CAH diagnosis • Congenital adrenal hyperplasia (CAH) is an inherited disorder of steroid hormone synthesis • Severe forms of CAH cause life-threatening salt-wasting crisis and virilization in newborns • Appropriate treatment demands early diagnosis • Hormone testing has a high false positive rate

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