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AmplideX® DM1 Dx Kit*: Resolving Zygosity and Detecting Mosaicism in DM1 Diagnosis

The AmplideX DM1 Dx Kit aims to revolutionize the diagnosis of DM1 by providing a sensitive and streamlined method to analyze DMPK expansions within a single day. The AmplideX technology has revolutionized how repeat expansions within the FMR1, C9orf72, and TOMM40 genes can be analyzed, significantly expediting time-to-result and reducing the reliance on cumbersome Southern blot analysis. 

The Kit extends this groundbreaking approach to the DMPK gene, which has long challenged laboratory analysis due to the presence of very large expansions (over 1000 repeats) and a high degree of mosaicism; the DM1 Dx kit, which is for use on widely established CE systems, overcomes these challenges and enables the sensitive detection and sizing of these DMPK repeats all within a single laboratory shift.

*CE-IVD.

 

AmplideX® DM1 Dx Kit