AmplideX® DM1 Dx Kit

The AmplideX® DM1 Dx Kit introduces a groundbreaking alternative for the detection and sizing of CTG trinucleotide repeats within the DMPK gene. Leveraging the Repeat-Primed PCR (RP-PCR) design in a simple, streamlined, PCR-only workflow, the kit provides an opportunity to replace Southern blot technology and put DMPK analysis within the reach of laboratories everywhere.

Features & Benefits

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 AmplideX® DM1 Dx 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 AmplideX® 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 – without the need for Southern blot confirmation.

Reduced Complexity

Analysis of the DMPK gene has been simplified through:

• Proprietary PCR solutions for GC-rich amplification and detection
• Eliminates need for Southern blot
• Resolves zygosity and detects mosaicism

Optimized Workflow

Valuable operator hands-on time has been significantly reduced through:

• Direct injection of PCR products into CE instruments
• Fully kitted, end-to-end solutions that significantly reduce hands-on-time
• Sample-to-result possible within a single shift

Quality Performance

Performing DMPK analysis with greater sensitivity and accuracy:

• Accurate sizing of all alleles ≤200 CTG repeats and detection of all alleles >200 repeats using CE
• Optional AGE protocol allows sizing of alleles between 200-2000 repeats
• Converts raw base pair data into number of repeats

Analytical Characteristics

Analytical characteristics of AmplideX® DM1 Dx Kit:

• High degree of concordance to Southern blot for large expansions (Figure 1)
• Accurate sizing of expansions up to 200 repeats (Figure 2)
• Clearly resolve zygosity (Figure 3)

Table 1. Comparison of residual clinical sample results between Asuragen (AmplideX® DM1 Dx Kit) and partner lab (PCR Southern blot).

Figure 1. Results of expanded allele analysis using AmplideX AGE protocol.

Figure 2: Sensitive and accurate sizing of DMPK expansions up to 200 repeats

Figure 3: Clear resolution of zygosity.

Figure 4: Workflow for the AmplideX® DM1 Dx Kit