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HCM MASTR - Multiplicom

Mutations and CNVs in the MYBPC3, MYH7, TNNI3, TNNT2, and MYL2 genes

The HCM MASTR assay amplifies the entire coding regions of MYBPC3, MYH7, TNNI3, TNNT2, and MYL2 genes. The assay contains 131 amplicons (280-430 bp) including control amplicons for evaluation of copy number variations in 5 Multiplex PCR reactions. Familial Hypertrophic cardiomyopathy (HCM) is a common disorder characterized by unexplained cardiac hypertrophy, myocyte disarray, and fibrosis affecting approximately 1 out of every 500 people worldwide. HCM is the leading cause of sudden cardiac death in young athletes and most common genetic cardiovascular disorder.

HCM occurs when the heart muscle cells enlarge causing the walls of the ventricles to thicken. The thickening may block blood flow out of the ventricle as well as cause the ventricles walls to stiffen. As a result, the ventricle is less able to relax and fill with blood; thus raising the blood pressure and disrupting the heart’s electrical signals leading to arrhythmias.

This condition is inherited in an autosomal dominant pattern and is attributed to mutations in one of a number of genes that encode for one of the sarcomere proteins. On average, the mutation detection rate for the most significant identified genes leading to the disorder is about 56 %: 20–30 % for MYBPC3 and MYH7, 3–5 % for TNNT2 and TNNI3, and 1–3 % for MYL2.

Current genetic methods used for HCM screening, such as Sanger sequencing of individual genes or large screening panels, are time-consuming, labor-intensive and more expensive. Early detection of the most affected genes by MPS provides a faster and comprehensive approach, thus leading to early identification of high-risk individuals and better management of HCM treatment and control.

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

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

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