AmplideX® PCR/CE DMPK Kit
The AmplideX PCR/CE DMPK 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 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).
| Sample Name | Lab A Results | Asuragen PCR/CE | Asuragen AGE |
|---|---|---|---|
| S1 | 10, 300-500 | 11, >200 | Smear, High Mosaic 300-500 |
| S2 | 4, 1200-1350 | 5, >200 | ~1100 |
| S3 | 4, 1100-1500 | 5, >200 | Smear, High Mosaic >500 |
| S4 | 11, 200-300 | 12, >200 | ~260-350 |
| S5 | 4, 800-900 | 5, >200 | ~650-700 |
| S6 | 25, 1050 | 26, >200 | ~1000 |
| S7 | 12, 100-150 | 13,71, 129 | 70, 130 |
| S8 | 11, 1900-2220 | 12, >200 | 700, 1900 |
| S9 | 21, 300 | 22, >200 | Mosaic, 261 |
| S10 | 4, 50-250 | 5, >200 | 150, Smear >200 |
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
Ordering Information
| Product Name | Number of Reactions | Catalog Number |
|---|---|---|
| AmplideX® PCR/CE DMPK Kit (RUO) | 32 | 49655 |
T 1-877-777-1874; 512-681-5200 F 512-681-5202 E orders@asuragen.com
AmplideX® DM1 Dx Kit*
Myotonic Dystrophy Type I (DM1, Steinert’s Disease) is an inherited form of muscular dystrophy, affecting 1 in 8,000 people worldwide. Associated with large, CTG trinucleotide expansions in the DMPK gene, laboratories have traditionally been challenged to detect and size these repeat sequences accurately and efficiently. By leveraging proprietary repeat-primed PCR (RP-PCR) technology, the AmplideX DM1 Dx Kit aims to revolutionize the diagnosis of DM1 by providing a simple, sensitive, and streamlined method to analyze DMPK expansions within a single day without the requirement for Southern blot technology.
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).
| Sample Name | Lab A Results | Asuragen PCR/CE | Asuragen AGE |
|---|---|---|---|
| S1 | 10, 300-500 | 11, >200 | Smear, High Mosaic 300-500 |
| S2 | 4, 1200-1350 | 5, >200 | ~1100 |
| S3 | 4, 1100-1500 | 5, >200 | Smear, High Mosaic >500 |
| S4 | 11, 200-300 | 12, >200 | ~260-350 |
| S5 | 4, 800-900 | 5, >200 | ~650-700 |
| S6 | 25, 1050 | 26, >200 | ~1000 |
| S7 | 12, 100-150 | 13,71, 129 | 70, 130 |
| S8 | 11, 1900-2220 | 12, >200 | 700, 1900 |
| S9 | 21, 300 | 22, >200 | Mosaic, 261 |
| S10 | 4, 50-250 | 5, >200 | 150, Smear >200 |
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
Ordering Information
| Product Name | Number of Reactions | Catalog Number |
|---|---|---|
| AmplideX® DM1 Dx Kit | 32 | 76048 |
T 1-877-777-1874; 512-681-5200 F 1-512-681-5202 E orders@asuragen.com
