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 NameLab A ResultsAsuragen PCR/CEAsuragen AGE
S110, 300-50011, >200Smear, High Mosaic 300-500
S24, 1200-13505, >200~1100
S34, 1100-15005, >200Smear, High Mosaic >500
S411, 200-30012, >200~260-350
S54, 800-9005, >200~650-700
S625, 105026, >200~1000
S712, 100-15013,71, 12970, 130
S811, 1900-222012, >200700, 1900
S921, 30022, >200Mosaic, 261
S104, 50-2505, >200150, 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 FMR1C9orf72, 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 NameLab A ResultsAsuragen PCR/CEAsuragen AGE
S110, 300-50011, >200Smear, High Mosaic 300-500
S24, 1200-13505, >200~1100
S34, 1100-15005, >200Smear, High Mosaic >500
S411, 200-30012, >200~260-350
S54, 800-9005, >200~650-700
S625, 105026, >200~1000
S712, 100-15013,71, 12970, 130
S811, 1900-222012, >200700, 1900
S921, 30022, >200Mosaic, 261
S104, 50-2505, >200150, 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

Back To
Top

By continuing to use the site, you agree to the use of cookies. more information

The cookie settings on this website are set to "allow cookies" to give you the best browsing experience possible. If you continue to use this website without changing your cookie settings or you click "Accept" below then you are consenting to this.

Close