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Clinical Research

FXS Detection Kit

FXS Detection Kit

Fragile X syndrome is the most common inherited mental retardation. Over 98% of fragile X syndrome is due to an expansion of an unstable CGG repeat sequence located in the 5' untranslated region of the FMR1 gene on chromosome X. Most of the male patients exhibit mental retardation, and often have characteristic physical features and abnormal behavior. Affected females tend to have mild mental retardation, and have variable associated physical features.

Incidence in the United States: Data from the National Fragile X Foundation show that incidence for men are about 1/3600 and for women are about 1/4000 to 1/6000.


■ Accurate:
Reliably detect full mutations with over 200 repeats; precisely calculate the CGG repeat number; and correctly infer homozygosity in female samples. 
■ Easy-to-use:
Single-tube amplification, applicable for automatic and batched detection. Use triplet repeat–primed PCR,rather than time- and labor- costing Southern blot.
■ Fast: 
Get results within 6 hours, with manual operation time less than 20 minutes. 
■ Repeatable: 
The repeatability is 100%.



Mental retardation/autism patients with unknown reason 
■ Women with idiopathic premature ovarian failure
■ Patient with tremor/ataxia syndrome
 Carrier screening in pregnant women

Sample types

Peripheral blood, blood stain, or amniotic fluid



Gene analyzer (ABI PRISM 310, 3100 Genetic Analyzer, or ABI 3130 Series, 3500 Series, 3730 Series Genetic Analyzer)

※Reference :
Obstet Gynecol. 2010 Oct;116(4):1008-10. 
BMC Pediatr. 2015 jul 15;15;77.
※ For research use only