Detection of Genetic Thrombophilia (Fa V Leiden & PT20210 mutation) using GeneXpert Technology with IQCP Implementation

Abstract Individuals having Genetic Thrombophilia pose a higher risk of having a thrombotic event. It is crucial to determine these gene variants to prevent a possible episode of thromboembolism. With the current PCR method, it involves individual processing of DNA isolation, amplification, and detection using three (3) different instruments resulting to an increased turnaround time of 5 to 7 days and additional staff utilization. It is performed by repetitive manual sample pipetting and preparation of reagent master mixes in small vials. Results interpretations are entered manually to a worklist built initially for final verification. These processes increase the risk of staff injury and potential result error that could impact patient management. The introduction of the GeneXpert technology by Cepheid will aid in the prevention of staff injury from repetitive motion, improve the turnaround time and eliminate potential risk of error. This test system performs DNA isolation, amplification and detection within a cartridge kit that will decrease instrument preventive maintenance costs and personnel hands-on utilization. Furthermore, an individualized quality control plan (IQCP) will be implemented after risk assessment of the pre-analytic, analytic and post-analytic phase of testing to customize quality control frequency ensuring the accuracy of test results upon approval by the Laboratory director. A combination of 104 whole blood samples of sodium citrate (83) and EDTA (21) that were previously tested with the current method was used for the validation study. Fifteen (15) of the whole blood citrate samples were frozen after testing to confirm the manufacturer\u27s claim of an alternative sample. Seventy-nine (100%) whole blood citrate samples and twenty-one (100%) whole blood EDTA samples were correlated with the results of the current PCR method