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PED MASTR Plus - Multiplicom

Mutations associated with primary electrical disorders (PED)

The PED MASTR Plus is a molecular assay (research use only) for the identification of all mutations in 51 genes underlying PED. PED predispose to ventricular arrhythmias in the absence of macro- and microscopic structural heart disease and yield a high risk for sudden cardiac death (SCD) as these heart rhythm abnormalities are difficult to detect. Furthermore, SCD seems to affect especially young, seemingly healthy individuals.

As a leading cause of mortality, SCD affects one in a thousand people. It can be caused by any of the different syndromes belonging to PED such as the Short QT Syndrome (SQTS), Long QT Syndrome (LQTS), Brugada Syndrome (BrS), Early Repolarization Syndrome (ERS), and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). The ventricular arrhythmias occurring in these syndromes can degenerate into ventricular fibrillation, which often results in SCD if immediate and specialized rescue intervention is unavailable. Moreover, as most inherited cardiac diseases show an autosomal dominant pattern of inheritance, relatives of young SCD have 50 % risk of carrying the inherited predisposition to develop cardiac disease.

Current methods, such as High Resolution Melting and Sanger sequencing, are time consuming, labor-intensive and expensive. This is mainly due to the overlapping phenotypes, the high locus heterogeneity, the size of the genes involved, and the uniqueness and wide distribution all over the coding sequences of the mutations. Identification of these mutations by MPS provides a faster and cost-effective approach.

Note: This assay is to be used for research use only.

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http://www.multiplicom.com/product/ped-mastr-plus
Petra Kupková

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Petra

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