CAH RealFast ™ RT-PCR Assays

Congenital Adrenal HyperplasiaCAH PCR

The ViennaLab CAH RealFast ™ RT-PCR Assays Discriminate between deletions, duplications and normal copy number status of the CYP21A2 gene in patients with congenital adrenal hyperplasmia. CAH PCR

CAH summarizes metabolic disorders that lead to inadequate synthesis of adrenal steroid hormones(cortisol, aldosterone). It’s worldwide incidence is 1:15,000 births. By far the most frequent forms of CAH are caused by mutations in the CYP21A2 gene encoding steroid 21 hydroxylase. CAH symptoms are highly variable and may include virilization of female newborns and life-threatening salt-wasting conditions.
Since early treatment with cortisol derivatives is desirable, CAH newborn screening programs based on 17-hydroxyprogesterone (17-OHP) levels have been introduced in many countries. Neonatal 17-OHP testing is highly susceptible to false positive results, making genetic testing an important confirmatory tool for early and reliable CAH diagnosis.

CAH RealFast ™ RT-PCR Assays technology CAH PCR

The ViennaLab RealFast™ Assays are based on real-time PCR and hydrolysis probes, also commonly called TaqMan® probes. The sequence-specific oligonucleotide probes carry a fluorescent reporter dye at the 5´-end and a quencher dye at the 3´-end. While the probe is intact, the quencher is close enough to the reporter to suppress the fluorescent signal of the 5´-fluorophore. During the combined annealing/extension phase of PCR, the probe is cleaved by the 5´ to 3´ exonuclease activity of Taq DNA polymerase, thereby separating the fluorophore from the quencher dye. This process results in detectable fluorescence, which is proportional to the amount of accumulated PCR product.

CAH - RealFast™ RT-PCR Assays

CAH - RealFast™ Assays7-410100 testsDiscrimination between deletion, duplications and normal copy nomber status of the CYP21A2 gene in patients with CAH