Product News ViennaLab 2018

The following multiplex RealFast™ Assays are available as of 1^st week of May 2018:

The new multiplex RealFast™ Assays include new assays such as the CYP2C9 mpx RealFast™ Assay and Alpha-1 antitrypsin (AAT) mpx RealFast™ Assay but also offer multiplexing for existing RealFast™ Assay such as the FV-PTH mpx RealFast™ Assay, MTHFR mpx RealFast™ Assay and HFE mpx RealFast™ Assay.

The CYP2C9 mpx RealFast™ Assay is designed for the simultaneous detection of the c.430C>T (CYP2C9*2) and c.1075A>C (CYP2C9*3) polymorphisms in the human CYP2C9 gene. Both variants of the CYP2C9 enzyme, *2 and *3, exhibit decreased function leading to poor metabolism (PM) phenotypes for various drugs. Patients with low enzyme activity are at risk of adverse drug reactions or therapeutic failure, particularly for CYP2C9 substrates with a narrow therapeutic window, such as S-warfarin or phenytoin. The kit is designed to identify patients carrying one or two variants of the CYP2C9 *2 or *3 variants.

The Alpha-1 antitrypsin (AAT) mpx RealFast™ Assay is designed for the simultaneous detection of the protease inhibitor (PI) variants *S and *Z of the SERPINA1 gene. These are the most frequent alleles associated with alpha-1 antitrypsin deficiency. The kit is intended for use as a diagnostic tool to identify alpha-1 antitrypsin deficient patients carrying a PI*S or PI*Z allele.

Alpha-1 antitrypsin deficiency is one of the most common hereditary disorders in persons of northern European heritage. Deficient variants are characterized by low serum levels of AAT and, for some alleles including the Z allele, also decreased enzymatic function. Unhindered proteolysis in the lungs causes damage of alveolar tissue and development of chronic obstructive pulmonary disease (i.e. emphysema, persistent airflow obstruction, and/or chronic bronchitis). Accumulation of abnormal AAT in the liver leads to liver disease, especially cirrhosis and hepatocellular carcinoma. Individuals carrying the PI*ZZ genotype are at a high risk of developing emphysema and liver disease, whereas the PI*SZ genotype is associated with a somewhat lower risk to become symptomatic.