HFE mpx RealFast™ Assay: Advanced Detection for Hemochromatosis

Introduction Hemochromatosis is a common genetic disorder, especially in individuals of Northern European descent. It is marked by excessive iron absorption, leading to accumulation in organs such as the liver, heart, and pancreas. Without timely diagnosis and treatment, hemochromatosis can cause severe complications like liver cirrhosis, liver cancer, diabetes, arthritis, and heart disease. Early detection is essential to prevent irreversible damage. The HFE mpx RealFast™ Assay by ViennaLab Diagnostics GmbH offers a reliable solution for identifying two critical mutations in the HFE gene: H63D and C282Y.

Understanding Hemochromatosis Hemochromatosis encompasses various genetic disorders linked to iron overload. These disorders typically involve a deficiency in hepcidin, a hormone that regulates iron levels. Mutations in genes such as HFE, Transferrin receptor 2, Hemojuvelin, Hepcidin, and Ferroportin 1 disrupt this balance. Among these, mutations in the HFE gene are most common.

The HFE gene mutations H63D and C282Y play a pivotal role in hemochromatosis. Around 80% of individuals with hemochromatosis are homozygous for the C282Y mutation, while a smaller percentage are compound heterozygous for C282Y and H63D mutations. Homozygous H63D carriers generally exhibit minimal iron absorption increases and rarely develop the condition.

The Importance of Genetic Testing Genetic testing for HFE mutations is vital for diagnosing hemochromatosis. Detecting these mutations allows for early intervention, reducing the risk of severe complications. The HFE mpx RealFast™ Assay provides an efficient and accurate method to identify H63D and C282Y mutations.

Storage and Stability The assay kit is shipped on cooling blocks and should be stored at -30°C to -15°C upon receipt. For short-term use (up to one month), it can be stored at 2°C to 8°C. The kit maintains its activity through 20 freeze/thaw cycles but should be protected from prolonged exposure to intense light to preserve stability.

Test Principles The HFE mpx RealFast™ Assay employs the fluorogenic 5’ nuclease assay, also known as the TaqMan® assay. This technique utilizes gene-specific primer pairs and dual-labeled hydrolysis probes to detect mutations. During PCR, Taq DNA polymerase cleaves the 5’-fluorescent reporter, generating a real-time fluorescent signal proportional to the PCR product.

Conclusion Hemochromatosis is a prevalent genetic condition that requires early detection to prevent serious health issues. The HFE mpx RealFast™ Assay by ViennaLab is a fast, accurate, and multiplexed tool for identifying H63D and C282Y mutations in the HFE gene. Its precise mutation discrimination empowers healthcare professionals to diagnose and manage hemochromatosis effectively, significantly enhancing patient outcomes. Early intervention can dramatically improve the quality of life for those affected by hemochromatosis.