Harnessing the capability of the Pacific Biosciences RS platform to sequence through long repetitive DNA stretches, researchers at the University of California, Davis, and PacBio have analyzed expanded CGG repeats in the fragile X syndrome gene.
Asuragen has been awarded a one-year, $346,000 grant from the National Institute of Child Health and Human Development to develop a high-throughput version of its PCR-based fragile X syndrome test for use in newborn population screening, according to a recently published grant ab
Asuragen said that that in the second half of this year it will release research-use-only reagents for evaluating FMR1 methylation status in the hopes of obtaining independent validation of the technology.
The research could prove useful in classifying autism patients according to functional pathways and protein interactions, ultimately enabling more effective development and targeting of therapies for the disorder.
One award will be used to create methods of identifying potentially cancer-causing or other detrimental mutations in induced pluripotent stem cells, and the other will be used to conduct research into a group of genetic diseases.
With the approval, Quest can offer the test to physicians in New York as well as in all other US states, as New York is the only state with an independent regulatory review process for lab-developed tests.
It remains to be seen whether a market for PCR-based fragile X population screening will soon develop, since mandating newborn testing may be highly dependent on the development of a difference-making therapeutic; and carrier screening will likely continue to rely on a case-by-case cost-benefit analysis.
The assay, which combines triplet repeat-primed PCR with high-throughput automated capillary electrophoresis, is fast enough and sensitive enough to serve as the basis for a first-tier routine population screen for fragile X and associated conditions, according to the researchers.