Significance of the use of the ViennaLab “Cardiovascular Disease panel” (CVD) Assay as a reflex test for the “Factor V/II/MTHFR Assay”

• First paper in the literature that compares the use of two assays to detect mutations in genes involved in thrombosis.
• The common genes involved in thrombosis may not be enough alone to consider a patient “negative” for genetic predisposition.
• Molecular diagnostics laboratories should consider expanding their services to include a more extensive genetic thrombophilia profiling.

IntroductionTrends toward identifying risk factors of thrombotic complications had become essential as an attempt to prevent and decrease the incidence of the complications. Thrombosis has been associated with predisposing factors like mutations in FV, PTH, MTHFR and other genes.AimEvaluate whether the CVD StripAssay has an added value in the screening for more thrombophilia risk factors, which may predispose for the development of cardiovascular diseases and other thrombotic clinical conditions.MethodsWe compared the results for 94 patients who were previously tested for Factor V, Factor II and MTHFR gene mutations using the ViennaLab FV-PTH-MTHFR StripAssay, and for whom additional testing for the Cardiovascular Disease panel (CVD StripAssay, ViennaLab) was requested.ResultsUsing the CVD StripAssay, 66% of patients who had no mutations when tested using the FV-PTH-MTHFR StripAssay or carried a mutation for MTHFR, were found to have additional genes' SNPs or mutations that are highly associated with a risk of thrombosis as per the available international literature.ConclusionThis observation is of extreme importance in clinical practice for the introduction of the extended CVD panel into routine molecular diagnostic test menus and highlights the importance of genetic analysis of the implicated genes in the management of patients with a thrombotic episode presentation.