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 mental retardation-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. Assay results are solely intended to be interpreted by healthcare professionals who are board certified in molecular genetics and to be used in conjunction with other clinical and diagnostic findings, consistent with professional standards of practice. Reflex testing, clinical genetic evaluation, and genetic counseling should be offered as appropriate. The test is for use on the Applied Biosystems® 3500 Dx Series Genetic Analyzers. This test is not indicated for use for fetal diagnostic testing, newborn screening, or for stand‐alone diagnostic purposes.

Disease 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)

Features & Benefits

The AmplideX Fragile X Dx and Carrier Screen Kit makes the diagnosis and screening of fragile X syndrome rapid, robust, and reliable.  The assay also provides access to Asuragen’s Xpansion Interpreter service 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 this offering, 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 Reporter software 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

Product Description

  • 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

 

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Ordering

Product Name Number of Reactions Catalog Number
AmplideX Fragile X Dx & Carrier Screen Kit 100 49591

T 1-877-777-1874; 512-681-5200
F 512-681-5202
E orders@asuragen.com

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 mental retardation-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. Assay results are solely intended to be interpreted by healthcare professionals who are board certified in molecular genetics and to be used in conjunction with other clinical and diagnostic findings, consistent with professional standards of practice. Reflex testing, clinical genetic evaluation, and genetic counseling should be offered as appropriate. The test is for use on the Applied Biosystems® 3500 Dx Series Genetic Analyzers. This test is not indicated for use for fetal diagnostic testing, newborn screening, or for stand‐alone diagnostic purposes.

Ordering

Product Name Number of Reactions Catalog Number
AmplideX Fragile X Dx & Carrier Screen Kit 100 49591

T 1-877-777-1874; 512-681-5200
F 1-512-681-5202
E orders@asuragen.com

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