The CarrierMax FMR1 Reagent Kit is used to detect the number of CGG repeats in the Fragile X Mental Retardation (FMR1) gene. This kit uses a dual PCR system combining full length and triplet primed PCR amplification (TP-PCR), followed by fragment analysis on the Applied Biosystems 3500/3500xL Genetic Analyzer or SeqStudio Genetic Analyzer, to accurately determine up to 200 CGG repeats and detect alleles that are >200 CGG repeats.
Key features of the kit include the ability to:
• Accurately and consistently detect and classify alleles as Normal (<45), Intermediate (45-54), Premutation (55-199), and Full Mutation (≥200)
• Identify Full Mutation alleles of >200 CGG repeats
• Determine the presence of AGG interrupting sequences
• Perform fragment analysis on the Applied Biosystems 3500/3500xL Genetic Analyzer or SeqStudio Genetic Analyzer
• Analyze the results in GeneMapper Software, followed by easy reporting of allele classification using the included CarrierMax Software
Fragile X is one of the leading causes of developmental delay and one of the key targets for carrier screening in individuals planning for conception. Fragile X syndrome arises from silencing or genetic disruption of the fragile X mental retardation (FMR1) gene through increase of CGG repeats or point or structural mutations. The majority (99%) of detected aberrations are comprised of the CGG repeat expansion that increases the risk of gene silencing . The CarrierMax FMR1 Reagent Kit offers the ability to reliably and accurately screen many samples to determine the FMR1 CGG repeat status of both FMR1 copies for females and the one FMR1 gene for males. Complex samples (mosaics, XXY, etc.) can be identified for further testing.
How to use
The kit comes with enough reagents to run 48 samples for FMR1 carrier screening research. The premise behind the CGG detection is the use of a dual PCR based system using both full length and triplet repeat PCR (TP-PCR) priming methodologies.
The kit and secondary analysis software can effectively process multiple samples to full results within one working day.
Download CarrierMax Software (.zip) ›
SeqStudio GeneMapper files
3500/XL GeneMapper files
Quality of performance
The analytical sensitivity and specificity of the assay is proven to be >99% using Coriell control standards. Accuracy was determined to be >99% in sizing of CGG repeats up to 200 repeats as tested and detection of alleles with >200 repeats. Reliability of the system as determined by reproducible classifications across experiments, labs, and systems indicates the suitability of the CarrierMax FMR1 kit for carrier screening applications such as Expanded Carrier Screening research.