Thermo Fisher Scientific CarrierMax FMR1 Reagent Kit

Thermo Fisher Scientific CarrierMax™ FMR1 Reagent Kit

The CarrierMax™ FMR1 Reagent Kit is designed to detect the number of CGG repeats in the Fragile X Mental Retardation (FMR1) gene. It employs a dual PCR system combining full-length and triplet primed PCR amplification (TP-PCR), followed by fragment analysis on Applied Biosystems™ 3500/3500xL Genetic Analyzer or SeqStudio™ Genetic Analyzer, to accurately determine up to 200 CGG repeats and identify alleles with >200 CGG repeats.

Key Features

• Accurately and consistently detect and classify alleles as:
  • Normal (<45)
  • Intermediate (45–54)
  • Premutation (55–199)
  • Full Mutation (≥200)
• Identify Full Mutation alleles (>200 CGG repeats)
• Determine presence of AGG interrupting sequences
• Perform fragment analysis on Applied Biosystems™ 3500/3500xL or SeqStudio™ Genetic Analyzer
• Analyze results using GeneMapper™ Software and classify alleles easily with CarrierMax™ Software

Research Background

Fragile X syndrome is a major cause of developmental delay and a key target for carrier screening in individuals planning conception. It arises from silencing or genetic disruption of the FMR1 gene through increased CGG repeats or structural mutations. Approximately 99% of detected aberrations involve CGG repeat expansion, which increases the risk of gene silencing.
The CarrierMax™ FMR1 Reagent Kit enables reliable and accurate screening of multiple samples to determine FMR1 CGG repeat status for both female (two copies) and male (one copy) samples. Complex samples (e.g., mosaics, XXY) can be identified for further testing.

How to Use

The kit includes reagents sufficient for 48 samples for FMR1 carrier screening research. Detection is based on a dual PCR system using full-length and triplet repeat PCR (TP-PCR) priming methodologies.
Both the kit and the secondary analysis software allow processing of multiple samples to full results within one working day.

Software and Resources

• Download CarrierMax Software (.zip)
• SeqStudio GeneMapper files
• 3500/XL GeneMapper files

Quality of Performance

Analytical sensitivity and specificity of the assay are proven to exceed 99% using Coriell control standards.
Accuracy is >99% for CGG repeat sizing up to 200 repeats and detection of alleles with >200 repeats.
Reproducible classifications across experiments, laboratories, and systems confirm the reliability of the CarrierMax™ FMR1 kit for carrier screening research applications.

Specifications