Detecting Thrombophilia Risk with the FV-PTH StripAssay®

Thrombophilia is a group of blood disorders characterized by an increased tendency to form abnormal blood clots. It can lead to various complications, including deep vein thrombosis (DVT) and pulmonary embolism (PE). Identifying genetic mutations associated with thrombophilia is crucial for personalized patient care.

Understanding Thrombophilia

Thrombophilia is often caused by genetic mutations that affect blood clotting factors. Two common mutations linked to thrombophilia are Factor V Leiden (FV) and prothrombin (PTH) G20210A. These mutations increase the risk of abnormal blood clot formation, potentially leading to serious health issues.

Methodology

The FV-PTH StripAssay® employs a three-step methodology:

1. DNA Isolation: The first step involves isolating DNA from the patient’s sample, typically blood. This DNA contains the genetic information necessary for identifying specific mutations.
2. PCR Amplification: Polymerase chain reaction (PCR) is used to amplify the target DNA region. During this step, biotinylated primers are used to label the DNA fragments.
3. Hybridization: The amplified DNA is then hybridized to a test strip containing allele-specific oligonucleotide probes. These probes are immobilized as an array of parallel lines on the strip. If a specific mutation is present in the patient’s DNA, it will bind to the corresponding probe on the strip.
4. Detection: Bound biotinylated sequences are detected using streptavidin-alkaline phosphatase and color substrates. The presence or absence of mutations is determined based on the color pattern observed on the strip.

Mutations Covered

The FV-PTH StripAssay® is designed to detect two specific mutations:

1. FV Leiden (1691G>A; R506Q): This mutation is a well-known genetic risk factor for thrombophilia. It leads to activated protein C resistance and is found in a significant percentage of patients with venous thromboembolism (VTE).
2. Prothrombin (PTH; Factor II) 20210G>A: Carriers of this mutation have an elevated risk of cerebral and deep vein thrombosis. When combined with the FV Leiden mutation, the risk further increases. This mutation is associated with increased prothrombin levels.

Conclusion

For thrombophilia diagnosis, the FV-PTH StripAssay® is a valuable asset. Its ability to accurately identify FV Leiden and prothrombin G20210A mutations enables healthcare professionals to assess thrombophilia risk effectively. By understanding a patient’s genetic predisposition to thrombophilia, medical interventions can be tailored to reduce the risk of life-threatening complications, ultimately improving patient outcomes