AmplideX® Fragile X Dx & Carrier Screen Kit
The AmplideX® Fragile X Dx & Carrier Screen Kit is an in vitro diagnostic device that uses polymerase chain reaction (PCR) and capillary electrophoresis to detect and identify the number of cytosine-guanine-guanine (CGG) repeats in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene using genomic DNA isolated from peripheral whole blood specimens. It is solely intended as an aid in the post-natal diagnosis of fragile X syndrome, and fragile X-associated disorders [i.e., fragile X-associated tremor/ataxia syndrome (FXTAS) or fragile X-associated primary ovarian insufficiency (FXPOI)], and for carrier testing in adults of reproductive age.*
Fragile X Syndrome Background
- Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and autism. This x-linked disorder is caused by a full mutation expansion (>200 CGG repeats) within the FMR1 gene
- Affects approximately 1 in 4,000 males and 1 in 8,000 females in the United States.
- Carrier screening for fragile X syndrome is recommended by the American College of Obstetricians and Gynecologists (ACOG)
- Approximately 1 million women are estimated to be fragile X carriers – yet most may be unaware of their carrier status.
- Testing for fragile X syndrome and its associated disorders (FXTAS, FXPOI) necessitates the accurate sizing of FMR1 CGG repeats across distinct clinical categories.
- Normal (5-44 repeats)
- Intermediate (45-54 repeats)
- Premutation (55-200 repeats)
- Full mutation (>200 repeats)
Our Product: The AmplideX Fragile X Dx & Carrier Screen Kit
Features & Benefits:
The AmplideX Fragile X Dx and Carrier Screen Kit can quickly and effectively be used for either post natal diagnosis or carrier screening for Fragile X Syndrome (FXS). The assay also provides access to Asuragen’s Xpansion Interpreter software for the accurate detection of AGG interruptions in the CGG repeat sequence, which allows for a more refined risk assessment for select premutation carriers. To learn more about our complimentary analysis software, click here.
Reduced Complexity
Ease-of-data analysis and reporting
- Cleared test supports rapid assay validation
- Implementation of proprietary PCR solution for amplifying GC-rich regions
- Clinically-validated AmplideX PCR/CE Fragile X Analysis Module automates sample genotyping
Optimized Workflow
Reduces valuable operator hands-on-time and overall turnaround time
- A single multi-allele control provides a peak in every clinical category and can be used as positive control
- Up to 50-fold reduction in Southern blot analysis
- End-to-end solution for FMR1 analysis including all necessary reagents and software
Quality Results
Highly-sensitive, precise, and accurate assessment of allele size for screening and diagnosis
- Detection of challenging allele expansions — including low abundance full mutation size mosaics — provides more sensitive and accurate diagnosis of Fragile X
- Rapid and accurate sizing enables high throughput identification of premutation carriers; access to Xpansion Interpreter® can further refine the risk to full mutation expansion
- Proven performance of technology as indicated by over 100 peer-reviewed publications
Technical Specifications
- Accurately detects and sizes alleles ≤200 CGGs and detects alleles >200 CGGs including mosaic alleles present at low allele fraction (Figure 1).
- Clearly resolves zygosity via visual repeat primer pattern (Figure 2).
- High percent agreement between AmplideX Fragile X Dx and Carrier Screen Kit and Southern blot for both diagnosis of fragile X syndrome (Table 1) and screening for fragile X carriers (Table 2).
- Detects low percent mosaic alleles in broad spectrum of different major allele backgrounds (Table 3).
- DNA-to-results in just one day (Figure 3).
Figure 1. Example of major premutation (PM) allele (90 CGG) with full mutation (FM) mosaic allele (>200 CGG) at 5% mosaic allele fraction
Figure 2. Clear, visual resolution of zygosity via repeat primer (“stutter”) peak pattern. A) Shows a sample with a homozygous 30/30 CGG call. No stutter pattern is present after the gene-specific peak, indicating no further peaks are present. B) Shows a heterozygous sample with a heterozygous 24/> 200 CGG call. There is a marked stutter peak pattern after the first gene-specific peak (24), indicating the presence of another gene-specific peak (>200).
Table 1. Full Mutation Positive vs. Full Mutation Negative assessment comparing the AmplideX® Fragile X Dx & Carrier Screen Kit with Southern Blot Analysis
Table 2. Premutation vs. Normal or Intermediate assessment comparing the AmplideX Fragile X Dx & Carrier Screen with Southern Blot Analysis
Table 3. Limit of Detection for mosaic alleles in different major allele backgrounds
Figure 3. Workflow for the AmplideX® Fragile X Dx & Carrier Screen Kit
Analytical and Clinical Validation of a PCR/CE Assay System for the Diagnosis of Fragile X Syndrome and Carrier Screening
AmplideX® Fragile X Dx & Carrier Screen Kit
The AmplideX® Fragile X Dx & Carrier Screen Kit is an in vitro diagnostic device that uses polymerase chain reaction (PCR) and capillary electrophoresis to detect and identify the number of cytosine-guanine-guanine (CGG) repeats in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene using genomic DNA isolated from peripheral whole blood specimens. It is solely intended as an aid in the post-natal diagnosis of fragile X syndrome, and fragile X-associated disorders [i.e., fragile X-associated tremor/ataxia syndrome (FXTAS) or fragile X-associated primary ovarian insufficiency (FXPOI)], and for carrier testing in adults of reproductive age.*
Fragile X Syndrome Background
- Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and autism. This x-linked disorder is caused by a full mutation expansion (>200 CGG repeats) within the FMR1 gene
- Affects approximately 1 in 4,000 males and 1 in 8,000 females in the United States.
- Carrier screening for fragile X syndrome is recommended by the American College of Obstetricians and Gynecologists (ACOG)
- Approximately 1 million women are estimated to be fragile X carriers – yet most may be unaware of their carrier status.
- Testing for fragile X syndrome and its associated disorders (FXTAS, FXPOI) necessitates the accurate sizing of FMR1 CGG repeats across distinct clinical categories.
- Normal (5-44 repeats)
- Intermediate (45-54 repeats)
- Premutation (55-200 repeats)
- Full mutation (>200 repeats)
Our Product: The AmplideX Fragile X Dx & Carrier Screen Kit
Features & Benefits:
The AmplideX Fragile X Dx and Carrier Screen Kit can quickly and effectively be used for either post natal diagnosis or carrier screening for Fragile X Syndrome (FXS). The assay also provides access to Asuragen’s Xpansion Interpreter software for the accurate detection of AGG interruptions in the CGG repeat sequence, which allows for a more refined risk assessment for select premutation carriers. To learn more about our complimentary analysis software, click here.
Reduced Complexity
Ease-of-data analysis and reporting
- Cleared test supports rapid assay validation
- Implementation of proprietary PCR solution for amplifying GC-rich regions
- Clinically-validated AmplideX PCR/CE Fragile X Analysis Module automates sample genotyping
Optimized Workflow
Reduces valuable operator hands-on-time and overall turnaround time
- A single multi-allele control provides a peak in every clinical category and can be used as positive control
- Up to 50-fold reduction in Southern blot analysis
- End-to-end solution for FMR1 analysis including all necessary reagents and software
Quality Results
Highly-sensitive, precise, and accurate assessment of allele size for screening and diagnosis
- Detection of challenging allele expansions — including low abundance full mutation size mosaics — provides more sensitive and accurate diagnosis of Fragile X
- Rapid and accurate sizing enables high throughput identification of premutation carriers; access to Xpansion Interpreter® can further refine the risk to full mutation expansion
- Proven performance of technology as indicated by over 100 peer-reviewed publications
Technical Specifications
- Accurately detects and sizes alleles ≤200 CGGs and detects alleles >200 CGGs including mosaic alleles present at low allele fraction (Figure 1).
- Clearly resolves zygosity via visual repeat primer pattern (Figure 2).
- High percent agreement between AmplideX Fragile X Dx and Carrier Screen Kit and Southern blot for both diagnosis of fragile X syndrome (Table 1) and screening for fragile X carriers (Table 2).
- Detects low percent mosaic alleles in broad spectrum of different major allele backgrounds (Table 3).
- DNA-to-results in just one day (Figure 3).
Figure 1. Example of major premutation (PM) allele (90 CGG) with full mutation (FM) mosaic allele (>200 CGG) at 5% mosaic allele fraction
Figure 2. Clear, visual resolution of zygosity via repeat primer (“stutter”) peak pattern. A) Shows a sample with a homozygous 30/30 CGG call. No stutter pattern is present after the gene-specific peak, indicating no further peaks are present. B) Shows a heterozygous sample with a heterozygous 24/> 200 CGG call. There is a marked stutter peak pattern after the first gene-specific peak (24), indicating the presence of another gene-specific peak (>200).
Table 1. Full Mutation Positive vs. Full Mutation Negative assessment comparing the AmplideX® Fragile X Dx & Carrier Screen Kit with Southern Blot Analysis
Table 2. Premutation vs. Normal or Intermediate assessment comparing the AmplideX Fragile X Dx & Carrier Screen with Southern Blot Analysis
Table 3. Limit of Detection for mosaic alleles in different major allele backgrounds
Figure 3. Workflow for the AmplideX® Fragile X Dx & Carrier Screen Kit
Analytical and Clinical Validation of a PCR/CE Assay System for the Diagnosis of Fragile X Syndrome and Carrier Screening
