Abstract Number: PB0562
Meeting: ISTH 2020 Congress
Background: Genotyping Factor V Leiden (FVL) and Prothrombin-G20210A (PT) genetic variants is not recommended in all cases diagnosed with Venous Thromboembolism (VTE). However, they are among the most requested clinical tests included in work-up for VTE, perhaps because homozygotes or certain special situations (such as pregnancy) need particular medical considerations. Most of available diagnostic techniques need prior genomic DNA (gDNA) extraction and are time-consuming. Thus, promising tests potentially able to save time have come out on the market. We show preliminary results obtained with a new in vitro diagnostic method, based on a loop-mediated isothermal amplification (LAMP) (CE-IVD LaCAR MDx; Liège, Belgium), which simultaneously detects FVL and PT on whole blood samples.
Aims: To compare the genotyping of FVL and PT variants with LAMP assay to the routine diagnostic method performed in our Centre.
Methods: From Dec 1st 2019 until Jan 31st 2020, 50 patients (median age 40 years [8-82], M/F: 11/39) were tested for FVL and PT. The LAMP method simultaneously detects both the variants, using a different fluorescent colour for each of them. We identified FVL and PT variants with the TaqMan methodology (Applied Biosystems).
Results: Overall, we identified 47 wild-type and 3 FVL heterozygotes, whereas 48 wild-type and 2 heterozygotes for the PT, with a 100% agreement with the current method. We calculated the turnaround time for both tests. Using the new method, we recorded a median turnaround time of 55 min (45-70 min), whereas the median turnaround time calculated for the routine method was 11 days (range 8-13 days).
Conclusions: Our results show that the LAMP method can detect FVL and PT variants with an accuracy of 100%. This new rapid diagnostic method could help improving efficiency of care.
To cite this abstract in AMA style:Tiscia GL, Vergura P, Colaizzo D, Favuzzi G, De Laurenzo A, Chinni E, Vecchione G, Detemmerman L, Fischetti L, Grandone E. Loop-Mediated Isothermal Amplification without DNA Extraction for Simultaneous Detection of Factor V Leiden and Prothrombin-G20210A Genetic Variants [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/loop-mediated-isothermal-amplification-without-dna-extraction-for-simultaneous-detection-of-factor-v-leiden-and-prothrombin-g20210a-genetic-variants/. Accessed November 27, 2021.
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