PTH 20210G>A RealFast™ Assay: A Precision Tool for Detecting Thrombophilia Risk

Introduction:

Thrombophilia, a condition characterized by an increased tendency to form blood clots, is a serious health concern. One of the genetic factors associated with thrombophilia is the 20210G>A mutation in the Factor II (F2) gene, also known as prothrombin (PTH). This mutation disrupts the normal regulation of blood clotting, making individuals more susceptible to venous thromboembolism, a potentially life-threatening condition. ViennaLab Diagnostics GmbH introduces the PTH 20210G>A RealFast™ Assay, a cutting-edge real-time PCR-based test designed to identify this mutation accurately.

Detecting the 20210G>A Mutation:

The PTH 20210G>A RealFast™ Assay is a revolutionary tool for the precise detection of the 20210G>A mutation within the F2 gene. This point mutation leads to elevated prothrombin levels in the blood, resulting in an increased risk of thrombotic events. By identifying individuals with this mutation, healthcare providers can offer targeted interventions and preventive measures, potentially saving lives.

Principle of the Test:

The PTH 20210G>A RealFast™ Assay relies on the TaqMan® assay, a fluorogenic 5′ nuclease-based technique. Each reaction comprises gene-specific primer pairs, amplifying a 110 bp fragment of the F2 gene, along with dual-labeled, allele-specific hydrolysis probes. During PCR, the Taq DNA polymerase’s exonuclease activity cleaves the 5′-fluorescent reporter from the hybridized probe, generating a fluorescent signal. This signal is detected in real-time and is directly proportional to the PCR product.

In normal samples, the HEX-labeled PTH 20210G>A wild type probe binds to the complementary gene fragment, resulting in a strong signal in the HEX channel and minimal signal in the FAM channel. Conversely, in homozygous mutant samples, the FAM-labeled PTH 20210G>A mutant probe binds to the gene fragment, generating a strong signal in the FAM channel and minimal signal in the HEX channel. Heterozygous samples exhibit intermediate signals in both channels.

Conclusion:

The PTH 20210G>A RealFast™ Assay from ViennaLab is a groundbreaking solution for identifying individuals at risk of thrombophilia due to the 20210G>A mutation. With its speed, accuracy, and comprehensive genotyping capabilities, this assay empowers healthcare providers to offer personalized care and interventions to those who need it most. Early detection is key to preventing potentially life-threatening thrombotic events, making this assay an invaluable tool in the field of thrombophilia diagnosis and management.