The FV-PTH-MTHFR StripAssay®: A Diagnostic Tool for Thrombophilic Disorders

In the field of genetic diagnostics, the FV-PTH-MTHFR StripAssay® represents a significant advancement in the detection of mutations in three key genes: The three key genes in question are Factor V (FV), Prothrombin (PTH), and Methylenetetrahydrofolate Reductase (MTHFR). The assay has been developed for use in human in vitro diagnostics and utilises the power of polymerase chain reaction (PCR) and reverse-hybridisation, offering a reliable and user-friendly system for clinical settings.

Functionality

The FV-PTH-MTHFR StripAssay® is a great tool in the identification of specific genetic mutations known to be associated with thrombophilic conditions. Thrombophilia, characterised by an increased propensity for blood clot formation, can lead to life-threatening venous thromboembolism (VTE) and arterial thrombosis. The assay is designed to detect three specific mutations: FV G1691A (Leiden), PTH G20210A, and MTHFR C677T. Each mutation is associated with a distinct risk profile and clinical outcome.

Factor V (FV) Leiden

Factor V Leiden mutation (1691G>A; R506Q) is one of the most significant genetic risk factors for inherited thrombophilia. This mutation results in activated protein C resistance and is found in 20-50% of VTE patients.

Prothrombin (PTH; Factor II) 20210G>A

Individuals carrying the PTH 20210G>A mutation face about a three-fold elevated risk for cerebral and deep vein thrombosis. The A allele of this mutation is also associated with increased prothrombin levels, making it a critical risk factor that further amplifies when combined with Factor V Leiden.

Methylenetetrahydrofolate Reductase (MTHFR)

The MTHFR 677C>T mutation is linked with an increased predisposition to both arterial and venous thrombosis, especially in the presence of additional risk factors. This thermolabile variant (T allele) is linked to reduced enzyme activity and elevated plasma homocysteine levels, especially when folate deficiency is also present.

Methodology

The FV-PTH-MTHFR StripAssay® integrates a three-step methodology to optimize the diagnostic process. First, DNA is isolated from the patient’s sample. Next, the extracted DNA undergoes PCR amplification using biotinylated primers. Finally, the amplified products are subjected to hybridization on a test strip containing immobilized allele-specific oligonucleotide probes. The resulting bound biotinylated sequences are then detected using streptavidin-alkaline phosphatase and color substrates, yielding quick and accurate results.

Importance

The presence of mutations in FV, PTH, and MTHFR genes can indicate a higher risk for various thrombotic disorders. Early detection allows clinicians to proactively manage these conditions, possibly reducing the incidence of thrombotic events and improving patient outcomes. The FV-PTH-MTHFR StripAssay® offers a convenient and effective way for healthcare providers to assess these genetic risks.

Conclusion

The FV-PTH-MTHFR StripAssay® marks a significant advancement in the field of genetic diagnostics for thrombophilic disorders. With its targeted approach and straightforward methodology, it plays an indispensable role in early detection and clinical decision-making. Given the potentially severe consequences of undiagnosed thrombophilia, this assay stands as an usefull tool in modern healthcare diagnostics.