Fragile X Syndrome (FXS) is the second most common inherited cause of intellectual disability, second only to Down syndrome. It is an X-linked disorder caused by an abnormal expansion of CGG trinucleotide repeats in the FMR1 gene on the X chromosome. This genetic alteration results in reduced or absent FMRP in the brain—a protein vital for normal synaptic signaling and neural function.
The CDCep™ FMR1 CGG repeat test Kit utilizes the internationally endorsed tri-primer PCR technology, offering precise quantification of CGG repeat numbers and rapid genotyping of the FMR1 gene. This comprehensive tool meets critical clinical needs, including prenatal screening, carrier screening, the investigation of premature ovarian failure and miscarriage, and genetic assessments in cases of autism in children.
High Sensitivity and Precision
· The kit enables full-length amplification of CGG repeat regions, ensuring accurate detection of repeat expansions exceeding 200 tests with 100% reproducibility.
Comprehensive Genotype Resolution
· Delivers precise differentiation of all genotypes, including accurate identification of both homozygous and heterozygous females—minimizing the risk of false-negative results.
Streamlined and Efficient Workflow
· Optimized for high-throughput and automated platforms, the entire process can be completed in approximately 6 hours, significantly improving laboratory efficiency.
| Species: | Human |
| Variant Types: | Trinucleotide repeat expansion |
| Sample Type: | blood,chorion,tissue |
| Method: | Fluorescent PCR - Capillary Electrophoresis |
| Sequencing Platform: | Applied Biosystems |
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