Congenital adrenal hyperplasia (CAH) is an interhited disorder of steroid hormone synthesis..... The StripAssay® is based on polymerase chain reaction (PCR) and reverse-hybridization.
The procedure includes three steps: (1) DNA isolation, (2) PCR amplification using biotinylated primers, (3) hybridization of amplification products to a test strip containing allele-specific oligonucleotide probes immobilized as an array of parallel lines. Bound biotinylated sequences are detected using streptavidin-alkaline phosphatase and color substrates.
The assay covers 11 mutations in the CYP21A2 gene: P30L, I2 splice (I2 G), Del 8 bp E3 (G110del8nt), I172N, Cluster E6 (I236N, V237E, M239K), V281L, L307 frameshift (F306+T), Q318X, R356W, P453S, R483P.
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder of the adrenal cortex (incidence 1:10,000-15,000) caused in about 95% of cases by genetic defects in the steroid 21-hydroxylase gene CYP21A2.....
The CAH RealFast™ CNV Assay is a fast and accurate real-time PCR test to determine copy number variations (CNV) of the CYP21A2 gene. Partial or complete deletions of CYP21A2 are known to be associated with defective adrenal steroid metabolism. The kit is designed to identify patients with congenital adrenal hyperplasia (CAH) and should be used in conjunction with the CAH StripAssay® or DNA sequencing. The semi-quantitative assay discriminates between deletions, duplications and normal copy number status in a human genomic DNA extract.
ViennaLab Diagnostics, an Austrian company, has been successful in developing, manufacturing and worldwide distributinggenetictests since its foundation in 1990.
ViennaLab StripAssays® and RealFast™ Assays are easy, reliable and affordable human in vitro diagnostic tests covering the following fields: Inherited Diseases, Genetic Predispositions, Pharmacogenetics and Oncology.
Assays are offered for Cardio-Vascular Diseases, Thalassemias, Cystic Fibrosis, Familial Mediterranean Fever, Alzheimer Disease, Sugar Intolerance, among others. Products of the pharmacogenetics and oncology portfolio help to achieve safer and more individualized anticoagulant and cancer therapies.
Based on polymerase chain reaction (PCR) and reverse hybridization, the well-established and user-friendly StripAssays® accomplish up to 48 immobilized probes for wild-type and mutated alleles. StripAssays® require standard laboratory equipment, making them very easy to implement. For high-volume users, automation of the entire teststrip processing is available. StripAssay® results can be either read by eye or interpreted with a proprietary scanner-based software (Evaluator).
RealFast™Assays are based on TaqMan® real-time PCR technology and allow the rapid and reliable detection of single nucleotide polymorphisms (SNPs) as well as copy number variations (CNVs).
All ViennaLab products are CE/IVD marked and manufactured according to the quality standards of ISO 9001 and ISO 13485. StripAssays® and RealFast™ Assays also regularly participate in international research studies and in external quality assessment (EQA) schemes, which allow scientific evidence of the quality employed.