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Short description

The CAH RealFast™ CNV Assay by ViennaLab Diagnostics GmbH is a state-of-the-art diagnostic tool designed for rapid and precise confirmation of Congenital Adrenal Hyperplasia (CAH). This real-time PCR-based assay detects copy number variations (CNV) in the CYP21A2 gene, crucial for CAH diagnosis. With a high detection rate of up to 94%, it offers reliable results in a fast and cost-efficient manner. The kit includes essential components, such as the RealFast™ 2x Probe Mix, CAH CNV Assay Mix, and CAH CNV Calibrator, ensuring accuracy. Storage is convenient, making it a valuable asset for healthcare professionals in timely CAH diagnosis and patient care.

Product highlights

  • Rapid CNV Detection
  • Comprehensive CAH Assessment
  • High Detection Rate
  • Precise Amplification

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Instructions for Use


For any missing information or if you require additional details, please do not hesitate to contact us. 

Specifications of the CAH PCR CNV Assay

Congenital Adrenal Hyperplasia (CAH) Confirmatory Testing with CAH RealFast™ CNV Assay

Congenital Adrenal Hyperplasia (CAH) encompasses metabolic disorders that lead to inadequate synthesis of adrenal steroid hormones, such as cortisol and aldosterone. The most common form of CAH is associated with genetic variants in the CYP21A2 gene, which encodes steroid 21-hydroxylase. CAH can manifest with a range of clinical presentations, from virilization of female newborns to life-threatening salt-wasting conditions.

The Challenge of CAH Diagnosis

To address CAH, newborn screening programs based on 17-hydroxyprogesterone (17-OHP) levels have been implemented worldwide. However, the high false-positive rate of 17-OHP assays necessitates second-tier testing for confirmation, often through liquid chromatography-tandem mass spectroscopy or molecular genetic analysis.

Principle of the Test

The assay relies on the fluorogenic 5’ nuclease assay (TaqMan® assay). Each reaction contains gene-specific primer pairs for amplifying CYP21A2 and the EC gene. Dual-labeled hydrolysis probes, one labeled with FAM for CYP21A2 and the other with HEX for the EC gene, hybridize to internal sequences of the amplified fragments. During PCR, the Taq DNA polymerase cleaves the 5’-fluorescent reporter from the hybridized probe, generating a real-time fluorescent signal proportional to the PCR product. The assay is a relative quantitation method, comparing the amount of nucleic acid targets to the CAH CNV Calibrator.

In conclusion, ViennaLab’s CAH RealFast™ CNV Assay offers a fast, accurate, and cost-efficient solution for detecting CYP21A2 gene copy number variations, a critical component of CAH diagnosis. Healthcare professionals can confidently use this assay to ensure timely and effective patient care.

Components of the CAH PCR CNV Assay
  • RealFast™ 2x Probe Mix: Bevat HotStart Taq DNA-polymerase en dNTP’s in een geoptimaliseerd buffer systeem voor nauwkeurige DNA-amplificatie.
  • CAH CNV Assay Mix: Dit omvat gene-specifieke primers en dubbel-gelabelde hydrolyse probes voor het CYP21A2-gen en een endogene controle (EC) gen.
  • CAH CNV Calibrator: Vertegenwoordigt de normale status met twee functionele kopieën van het CYP21A2-gen en dient als referentiepunt voor de test.

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