New CE-marked Test Available for Fragile X Screening

SINGAPORE, May 26, 2014 /PRNewswire/ -- Biofactory Pte Ltd announced that their FastFraX™ FMR1 Identification Kit has achieved CE marking. The product is now available for Europe and will be launched at the European Society of Human Genetics Conference 2014. The FastFraX™ Identification Kit utilizes a simple polymerase chain reaction (PCR) that detects and enables screening of mutations in the Fragile X mental retardation 1 (FMR1) gene causing Fragile X syndrome. 

"This is a significant milestone for patients and carriers. This PCR-only test is more straightforward than current detection methods, providing a faster and more cost-effective option for large-scale screening," said Managing Director Mr. Theodore Tan. Fragile X-associated disorders such as primary ovarian insufficiency and ataxia are similarly identified.

Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and leading cause of autism, affecting approximately 1/5,000 males and 1/10,000 females. It is second to Down syndrome as a genetic cause of mental deficiency. An estimated 1 in 150 women worldwide are carriers of the defective gene. Parents who are asymptomatic carriers risk passing the mutation to their children.

Individuals, especially children, with unknown causes of mental disability or developmental delay will benefit from FXS testing. Though FXS has no cure, early intervention improves patients' livelihoods. Testing benefits are extended to family members as female carriers risk developing late onset Fragile X-associated disorders.

FastFraX™ FMR1 Identification Kit utilizes PCR to amplify the mutation from patient DNA samples and a melt curve analysis for rapidly identifying individuals with aberrant repeated DNA sequences in the FMR1 gene.

Scientific Director, Dr Guan Ming, explained, "This is the first test in the field that, in the true sense, enables FXS screening. Thousands of samples can now be sorted by this PCR alone without needing Southern blot or capillary electrophoresis. The FXS testing procedure will be greatly streamlined because the test requires minimal hands-on time and the results are obtained in under six hours."

FastFraX™ FMR1 Identification Kit is the first of Biofactory's series of kits to achieve CE mark. Two other kits that analyze and confirm FXS are in the process of obtaining certification and will be launched later this year. The FastFraX™ Sizing Kit and the FastFraX™ Methylation Status Kit analyze samples flagged by the Identification Kit. The Sizing Kit measures the number of aberrant repeated DNA sequences, providing information about carrier status and risk of Fragile X-associated disorders. The Methylation Status Kit determines if the defective FMR1 gene produces protein and confirms if an individual has FXS. Together, the complete suite of FastFraX™ test kits equips genetic laboratories to better analyze the severity of FMR1 gene mutation in patient samples.

About Biofactory Pte Ltd

Biofactory provides superior clinical testing solutions by commercializing innovative technologies. Coupling strong molecular diagnostic capabilities with a qualified team, BioFactory has expertise to develop and deliver diagnostic products. For more information, please visit www.fastfrax.com.