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STARGARDT MASTR - Multiplicom

Mutations and CNVs associated with Stargardt macular dystrophy by MPS

STARGARDT MASTR is a ready to use MPS based molecular assay for early detection of ABCA4, ELOVL4 and CNGB3 mutations associated with Stargardt macular dystrophy.

This test amplifies the coding regions of the ABCA4, ELOVL4 AND CNGB3 genes.  The assay contains 91 amplicons (300-430 bp) amplified in 4 multiplex PCR reactions. This assay also contains control amplicons for evaluation of copy number variations.

Stargardt disease, also known as macular dystrophy, is a progressive inherited autosomal recessive condition that often appears at an early age leading to legal blindness. Recently some families were found to have an autosomal dominant pattern of inheritance. The condition affects the retina, mainly the macula, which is the center of the retina, and it affects 1 in 10,000 people. 

The Stargardt macular degeneration is mainly caused by mutations in the ABCA4 gene, although in some cases mutations in the ELOVL4 and CNGB3 have also been identified

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

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

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Petra

Kupková

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