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MARFAN MASTR - Multiplicom

For the early detection of FBN1 gene mutations

MARFAN MASTR is a ready to use MPS based molecular assay for early detection of FBN1 mutations. The MARFAN MASTR amplifies the coding regions of the FBN1 gene, including SNVs and CNVs, implicated in the Marfan syndrome. The assay provides 86 amplicons (290-420 bp) in 4 Multiplex PCR reactions.

Marfan syndrome (MFS) is a disorder of the connective tissue, affecting most organs and tissues, especially the skeleton, lungs, eyes, heart, and the aorta. People with MFS tend to be unusually tall, with long limbs and long thin fingers. Mutations in the FBN1 gene cause MFS by reducing the amount of functional fibrillin-1 that is required to form microfibrils, thus releasing excess growth factors and decreasing tissues elasticity, leading to overgrowth and instability of tissues.

MFS is an autosomal dominant disease. At least 25 percent of MFS cases result from de novo mutation in the FBN1 gene.

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

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http://www.multiplicom.com/product/marfan-mastr-0
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