triplet repeat-primed PCR

Carrier screens for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy detected carrier status in one in 20 individuals and led to diagnoses in seven pregnancies.

Under the collaboration, Asuragen will develop diagnostic kits for analyzing repeat sequences using Thermo Fisher's 3500 Dx Series Genetic Analyzer CS2 instrument.

Utah's ARUP Laboratories has replaced its previous approach to PCR-based Huntington's disease testing with a triple repeat primed PCR method developed by ARUP's' Elaine Lyon.

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.

What happens to scientific papers when certain journals are no longer published? Some scientists are trying to make sure they don't disappear forever.

A study in Microbiome finds that heavy drinkers have an unhealthy mix of bacteria in their mouths.

Doctors and patients are still trying to figure out what role at-home genetic testing should play in healthcare, Newsweek says.

In Genome Research this week, mismatch repair deficiency in C. elegans, retracing transcriptions start site evolution in the human genome, and more.