AmplideX® PCR/CE TOMM40 Kit

Alzheimer’s Disease (AD) is now the most common cause of dementia worldwide, affecting over 46M people. These numbers are expected to increase dramatically, reaching nearly 75M people by 20301. Given this growing human and healthcare burden, the need to identify potential biomarkers for early detection and risk assessment remains a major focus.

Multiple studies have implicated the poly-T length polymorphism, rs10524523 (‘523), of the TOMM40 gene in the age of onset of AD. The AmplideX PCR/CE TOMM40 Kit (RUO) is the first clinical research tool that accurately resolves the poly-T polymorphism at the TOMM40 ‘523 locus and provides researchers with a reliable and reproducible assay to advance the understanding of the role of this gene in AD.

1Source: World Alzheimer Report 2015. View the full report here.

Features & Benefits

Asuragen is the established leader in clinical research technologies for the investigation of high homology repeat disorders with proven market deployed kits for FMR1 and C9orf72 research. The AmplideX PCR/CE TOMM40 Kit (RUO) expands our portfolio of neurogenetics tests into the AD space to provide an easy-to-use, robust and reliable kit that offers single base resolution for the AT-rich region of the ‘523 polymorphism.

The assay PCR-amplifies the TOMM40 poly-T repeat region from purified genomic DNA followed by fragment sizing on an Applied Biosystems Genetic Analyzer. The size of the PCR products is converted to the number of poly-T repeats using mobility conversion factors.

Reduced Complexity
Simplified analysis of the TOMM40 gene

  • First-ever kitted and distributed solution
  • Easy-to-interpret results

Optimized Workflow
Streamlined, rapid and reliable workflow

  • Validated protocol ensures reproducible results
  • Minimal hands-on and turnaround time (Figure 1)

Quality Performance
Greater sensitivity and accuracy than currently available methods

  • 1 base pair resolution for poly-T sizing ensures accurate results at key genotypic boundaries
  • Reliable and accurate results every time

Figure 1. Workflow of the AmplideX PCR/CE TOMM40 Kit (RUO)

AmplideX TOMM40 Kit Workflow

Analytical Characteristics

  • Reproducible: Can be used to reliably compare research results across institutions and cohorts (Figure 2)
  • Accurate: Single base pair resolution ensures accurate results at key genotypic boundaries associated with the age of onset in Late-Onset AD (LOAD) (Figure 3)
  • Flexible: Compatible with a wide range of DNA input, including low amounts of DNA (Figure 4)

Figure 2. A synthetic 48mer was accurately sized 8/8 times within 1 bp (7/8 = 48 Ts; 1/8 = 47 Ts)

TOMM40 Fig2

Figure 3. Corriell sample NG09714 accurately sized and categorized by the kit: Size 29,30 Ts; Category: L/VL (Long/Very Long)

TOMM40 Fig3

Figure 4. Amplification of 16,29 T alleles at DNA inputs ranging from 5 ng to 100 ng: Even at the lowest input, the peaks are clearly visible above the background signal

TOMM40 Fig4b

TOMM40 Fig4c

Ordering

Product Name Number of Reactions Catalog Number
AmplideX® PCR/CE TOMM40 Kit (RUO) 48 49611

T 1-512-681-5200 | 1-877-777-1874 (toll-free)
F 1-512-681-5202
E orders@asuragen.com

AmplideX® PCR/CE TOMM40 Kit

Alzheimer’s Disease (AD) is now the most common cause of dementia worldwide, affecting over 46M people. These numbers are expected to increase dramatically, reaching nearly 75M people by 20301. Given this growing human and healthcare burden, the need to identify potential biomarkers for early detection and risk assessment remains a major focus.

Multiple studies have implicated the poly-T length polymorphism, rs10524523 (‘523), of the TOMM40 gene in the age of onset of AD. The AmplideX PCR/CE TOMM40 Kit (RUO) is the first clinical research tool that accurately resolves the poly-T polymorphism at the TOMM40 ‘523 locus and provides researchers with a reliable and reproducible assay to advance the understanding of the role of this gene in AD.

1Source: World Alzheimer Report 2015. View the full report here.

Features & Benefits

Asuragen is the established leader in clinical research technologies for the investigation of high homology repeat disorders with proven market deployed kits for FMR1 and C9orf72 research. The AmplideX PCR/CE TOMM40 Kit (RUO) expands our portfolio of neurogenetics tests into the AD space to provide an easy-to-use, robust and reliable kit that offers single base resolution for the AT-rich region of the ‘523 polymorphism.

The assay PCR-amplifies the TOMM40 poly-T repeat region from purified genomic DNA followed by fragment sizing on an Applied Biosystems Genetic Analyzer. The size of the PCR products is converted to the number of poly-T repeats using mobility conversion factors.

Reduced Complexity
Simplified analysis of the TOMM40 gene

  • First-ever kitted and distributed solution
  • Easy-to-interpret results

Optimized Workflow
Streamlined, rapid and reliable workflow

  • Validated protocol ensures reproducible results
  • Minimal hands-on and turnaround time (Figure 1)

Quality Performance
Greater sensitivity and accuracy than currently available methods

  • 1 base pair resolution for poly-T sizing ensures accurate results at key genotypic boundaries
  • Reliable and accurate results every time

Figure 1. Workflow of the AmplideX PCR/CE TOMM40 Kit (RUO)

AmplideX TOMM40 Kit Workflow

Analytical Characteristics

  • Reproducible: Can be used to reliably compare research results across institutions and cohorts (Figure 2)
  • Accurate: Single base pair resolution ensures accurate results at key genotypic boundaries associated with the age of onset in Late-Onset AD (LOAD) (Figure 3)
  • Flexible: Compatible with a wide range of DNA input, including low amounts of DNA (Figure 4)

Figure 2. A synthetic 48mer was accurately sized 8/8 times within 1 bp (7/8 = 48 Ts; 1/8 = 47 Ts)

TOMM40 Fig2

Figure 3. Corriell sample NG09714 accurately sized and categorized by the kit: Size 29,30 Ts; Category: L/VL (Long/Very Long)

TOMM40 Fig3

Figure 4. Amplification of 16,29 T alleles at DNA inputs ranging from 5 ng to 100 ng: Even at the lowest input, the peaks are clearly visible above the background signal

TOMM40 Fig4b

TOMM40 Fig4c

Ordering

Product Name Number of Reactions Catalog Number
AmplideX® PCR/CE TOMM40 Kit (RUO) 48 49611

T 1-512-681-5200
F 1-512-681-5202
E orders@asuragen.com

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