Molecular diagnostic testing for inherited thrombophilia using Invader

Area of Science:

• Medical Genetics
• Molecular Diagnostics
• Thrombosis Research

Background:

• Idiopathic thrombotic events prompt testing for inherited thrombophilia risk factors since the 1990s.
• Molecular genetic screening for thrombophilia is increasingly integrated into standard medical care.
• Factor V Leiden (R506Q) is a common target for inherited thrombophilia screening, with evolving detection methodologies.

Purpose of the Study:

• To present the Invader technology for mutation/polymorphism screening.
• To provide suggestions for utilizing the Invader system specifically for thrombophilia testing.
• To highlight a robust method for detecting common thrombophilia variants.

Main Methods:

• Utilized Invader technology, a non-PCR-based method, for detecting Factor V Leiden and prothrombin G20210A.
• Compared Invader with other methods like PCR-restriction fragment length polymorphism (RFLP), allele-specific PCR, and allele-specific hybridization.
• Discussed the adaptability of Invader technology for solid support and flow cytometry detection.

Main Results:

• Invader was the most commonly employed method in one-third of clinical laboratories for Factor V Leiden and prothrombin G20210A screening in a 2003 CAP survey.
• Invader technology is a medium-throughput assay suitable for most hospital clinical laboratories.
• The Invader assay is amenable to solid support performance and measurement via flow cytometry.

Conclusions:

• The Invader system provides a viable and efficient method for genetic screening of thrombophilia.
• This technology supports the growing need for accurate and accessible thrombophilia defect detection in clinical settings.
• Further utilization of the Invader system can enhance mutation/polymorphism screening in molecular diagnostics.