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triplet repeat-primed PCR

The firm's AmplideX Fragile X Dx and Carrier Screen Kit is intended to help diagnose fragile X syndrome and assess parental risk of having a child with the syndrome.

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.

Nobel laureates and scientific societies urge NIH and the Department of Health and Human Services to revisit the recent decision to end funding for a coronavirus grant.

Bloomberg reports that BGI's SARS-CoV-2 testing sites in the Middle East have raised concerns among US officials.

A new Pew Research Center poll finds confidence in medical researchers has grown among US adults since the start of the coronavirus pandemic.

In Science this week: machine learning algorithm for faster Mendelian disorder diagnoses, gene linked to safe response to nitrogen-containing bisphosphonates, and more.