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 PCR/CE DMPK 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 DMPK 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
• May eliminate 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 up to 1000 repeats
• Converts raw base pair data into number of repeats

*For Research Use Only. Not for use in Diagnostic procedures.

Analytical Characteristics

Analytical characteristics of AmplideX PCR/CE DMPK Kit:

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

Table 1.  Comparison of residual clinical sample results between Asuragen (AmplideX PCR/CE DMPK 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 PCR/CE DMPK Kit

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 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.

Reduced Complexity

Analysis of the DMPK gene has been simplified through:

• Proprietary PCR solutions for GC-rich amplification and detection
• May eliminate 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 up to 1000 repeats
• Converts raw base pair data into number of repeats

*CE-IVD for US export only.

Analytical Characteristics

Analytical characteristics of AmplideX PCR/CE DMPK Kit:

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

Table 1.  Comparison of residual clinical sample results between Asuragen (AmplideX PCR/CE DMPK 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 PCR/CE DMPK Kit