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.
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
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
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 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